Mutational spectra of mtDNA control region in single CD34+ cells, T cells, B cells, and granulocytes
. | . | Heterogeneity . | . | . | . | |||
|---|---|---|---|---|---|---|---|---|
| Donor no. (age, y/sex) and mtDNA sequence differences from aggregate sequence . | Cell no. . | Frequency . | . | Unique . | . | |||
| . | . | No. . | % . | No. . | % . | |||
| 1 (48/F) | ||||||||
| CD34+ cells | ||||||||
| Aggregate sequence | 53 | — | — | — | — | |||
| Nonaggregate sequence | — | 32 | 37.6 | 13 | 15.3 | |||
| +8CT6C,* 9CT6C* | 20 | — | — | — | — | |||
| +71G > G/del,§ 8CT6C,* 9CT6C* | 1 | — | — | — | — | |||
| +204T > C | 1 | — | — | — | — | |||
| +7CT6C,* 8CT6C,* 16192C > T/C | 1 | — | — | — | — | |||
| +8CT6C,* 9CT6C,* 16207A > G/A | 1 | — | — | — | — | |||
| +8CT6C,* 9CT6C,* 16355C > C/T | 1 | — | — | — | — | |||
| +8CT6C* 9CT6C,* 10CT6C* | 1 | — | — | — | — | |||
| +8CT6C,* 9CT6C,* 10CT6C,* 16129G > G/A | 1 | — | — | — | — | |||
| +551A > G§ | 1 | — | — | — | — | |||
| +556A > G§ | 1 | — | — | — | — | |||
| +16129G > A/G | 1 | — | — | — | — | |||
| +16192C > T/C | 1 | — | — | — | — | |||
| +16482A > A/G, 16525A > G§ | 1 | — | — | — | — | |||
| T cells | ||||||||
| Aggregate sequence | 53 | — | — | — | — | |||
| Nonaggregate sequence | — | 34 | 39.1 | 20 | 23 | |||
| +8CT6C,* 9CT6C* | 14 | — | — | — | — | |||
| +8CT6C,* 9CT6C,* 10CT6C* | 2 | — | — | — | — | |||
| +57T > T/C,§ 8CT6C,* 9CT6C* | 1 | — | — | — | — | |||
| +71G > del,§ 8CT6C,* 9CT6C,* 16132A > A/G§ | 1 | — | — | — | — | |||
| +143G > G/A, 16278C > C/T | 1 | — | — | — | — | |||
| +162C > C/T,§ 16381T > T/C | 1 | — | — | — | — | |||
| +246T > T/C | 1 | — | — | — | — | |||
| +7CT6C,* 8CT6C,* 16390G > A | 1 | — | — | — | — | |||
| +8CT6C,* 9CT6C,* 16149A > A/G§ | 1 | — | — | — | — | |||
| +8CT6C,* 9CT6C,* 16192C† | 1 | — | — | — | — | |||
| +9CT6C,* 10CT6C* | 1 | — | — | — | — | |||
| +9CT6C,* 10CT6C,* 16184C > T | 1 | — | — | — | — | |||
| +9CT6C,* 10CT6C,* 11CT6C* | 1 | — | — | — | — | |||
| +526G > G/A§ | 1 | — | — | — | — | |||
| +16210A > A/G§ | 1 | — | — | — | — | |||
| +16222C > T | 1 | — | — | — | — | |||
| +16222C > C/T | 1 | — | — | — | — | |||
| +16267C > C/T§ | 1 | — | — | — | — | |||
| +16277A > A/G§ | 1 | — | — | — | — | |||
| +16390G > G/A | 1 | — | — | — | — | |||
| B cells | ||||||||
| Aggregate sequence | 69 | — | — | — | — | |||
| Nonaggregate sequence | — | 17 | 19.8 | 11 | 12.8 | |||
| +8CT6C,* 9CT6C* | 6 | — | — | — | — | |||
| +7CT6C,* 8CT6C* | 2 | — | — | — | — | |||
| +7CT6C* | 1 | — | — | — | — | |||
| +189A > G | 1 | — | — | — | — | |||
| +204T > C | 1 | — | — | — | — | |||
| +7CT6C,* 16262C > C/T | 1 | — | — | — | — | |||
| +16112C > C/A§ | 1 | — | — | — | — | |||
| +16147C > T | 1 | — | — | — | — | |||
| +16148C > C/T | 1 | — | — | — | — | |||
| +16189T > C, 16190C > C/T | 1 | — | — | — | — | |||
| +16390G > A | 1 | — | — | — | — | |||
| Granulocytes | ||||||||
| Aggregate sequence | 27 | — | — | — | — | |||
| Nonaggregate sequence | — | 37 | 57.8 | 27 | 42.2 | |||
| +8CT6C,* 9CT6C* | 8 | — | — | — | — | |||
| +7CT6C,* 8CT6C* | 4 | — | — | — | — | |||
| +37A > G/A§ | 1 | — | — | — | — | |||
| +61C > A/C§ | 1 | — | — | — | — | |||
| +72T > T/C | 1 | — | — | — | — | |||
| +96C > T/C,§ 8CT6C,* 9CT6C* | 1 | — | — | — | — | |||
| +141C > C/T§ | 1 | — | — | — | — | |||
| +168T > T/C§ | 1 | — | — | — | — | |||
| +168T > T/C,§ 217T > T/C | 1 | — | — | — | — | |||
| +181A > A/G§ | 1 | — | — | — | — | |||
| +192T > T/C, 8CT6C,* 9CT6C,* 16203A > A/G | 1 | — | — | — | — | |||
| +204T > T/C, 16111C > G/C§ | 1 | — | — | — | — | |||
| +221G > A/G§ | 1 | — | — | — | — | |||
| +265T > T/C, 16213G > A, 16363C > C/T§ | 1 | — | — | — | — | |||
| +7CT6C,* 16445T > T/C§ | 1 | — | — | — | — | |||
| +7CT6C,* 8CT6C,* 16227A > A/G | 1 | — | — | — | — | |||
| +8CT6C,* 9CT6C,* 16371A > A/G§ | 1 | — | — | — | — | |||
| +316G > G/A | 1 | — | — | — | — | |||
| +514-515delCA | 1 | — | — | — | — | |||
| +16036G > G/del§ | 1 | — | — | — | — | |||
| +16064T > T/C§ | 1 | — | — | — | — | |||
| +16066A > A/G | 1 | — | — | — | — | |||
| +16086T > C | 1 | — | — | — | — | |||
| +16106G > G/C§ | 1 | — | — | — | — | |||
| +16120A > A/G§ | 1 | — | — | — | — | |||
| +16344C > T | 1 | — | — | — | — | |||
| +16468T > T/C§ | 1 | — | — | — | — | |||
| 2 (44/M) | ||||||||
| CD34+ cells | ||||||||
| Aggregate sequence | 60 | — | — | — | — | |||
| Nonaggregate sequence | — | 32 | 34.8 | 15 | 16.3 | |||
| +8CT6C,* 9CT6C,* 10CT6C* | 12 | — | — | — | — | |||
| +9CT6C,* 10CT6C* | 5 | — | — | — | — | |||
| +8CT6C* | 3 | — | — | — | — | |||
| +64C > C/T | 1 | — | — | — | — | |||
| +228G > A/G | 1 | — | — | — | — | |||
| +236T > T/C | 1 | — | — | — | — | |||
| +9CT6C,* 10CT6C,* 11CT6C* | 1 | — | — | — | — | |||
| +385A > G | 1 | — | — | — | — | |||
| +468C > C/A | 1 | — | — | — | — | |||
| +16140T > T/C, 16411C > C/T§ | 1 | — | — | — | — | |||
| +16269A > A/G | 1 | — | — | — | — | |||
| +16273G > G/A, 16544T > C§ | 1 | — | — | — | — | |||
| +16311T > T/C | 1 | — | — | — | — | |||
| +16321C > C/T | 1 | — | — | — | — | |||
| +16431C > C/T§ | 1 | — | — | — | — | |||
| T cells | ||||||||
| Aggregate sequence | 77 | — | — | — | — | |||
| Nonaggregate sequence | — | 17 | 18.1 | 6 | 6.4 | |||
| +8CT6C,* 9CT6C,* 10CT6C* | 10 | — | — | — | — | |||
| +8CT6C* | 3 | — | — | — | — | |||
| +204T > C/T | 1 | — | — | — | — | |||
| +9CT6C,* 10CT6C,* 11CT6C* | 1 | — | — | — | — | |||
| +487A > A/G§ | 1 | — | — | — | — | |||
| +16399A > A/G | 1 | — | — | — | — | |||
| B cells | ||||||||
| Aggregate sequence | 48 | — | — | — | — | |||
| Nonaggregate sequence | — | 30 | 38.5 | 14 | 17.9 | |||
| +8CT6C,* 9CT6C,* 10CT6C* | 13 | — | — | — | — | |||
| +8CT6C* | 5 | — | — | — | — | |||
| +8CT6C,* 9CT6C,* 10CT6C,* 16093T > C | 1 | — | — | — | — | |||
| +9CT6C,* 10CT6C* | 1 | — | — | — | — | |||
| +368A > G§ | 1 | — | — | — | — | |||
| +465C > C/T§ | 1 | — | — | — | — | |||
| +16131T > T/C | 1 | — | — | — | — | |||
| +16170A > A/G | 1 | — | — | — | — | |||
| +16183A > G | 1 | — | — | — | — | |||
| +16183A > A/del | 1 | — | — | — | — | |||
| +16191C > C/T | 1 | — | — | — | — | |||
| +16353C > C/T | 1 | — | — | — | — | |||
| +16399A > G | 1 | — | — | — | — | |||
| +16423A > A/G§ | 1 | — | — | — | — | |||
| Granulocytes | ||||||||
| Aggregate sequence | 44 | — | — | — | — | |||
| Nonaggregate sequence | — | 38 | 46.3 | 26 | 31.7 | |||
| +9CT6C,* 10CT6C* | 7 | — | — | — | — | |||
| +8CT6C* | 4 | — | — | — | — | |||
| +8CT6C,* 9CT6C,* 10CT6C* | 3 | — | — | — | — | |||
| +122C > C/T§ | 2 | — | — | — | — | |||
| +49A > A/G,§ 8CT6C,* 16443T > T/C§ | 1 | — | — | — | — | |||
| +108A > G/A, 16335A > T/A§ | 1 | — | — | — | — | |||
| +119T > T/C, 16193C > C/T | 1 | — | — | — | — | |||
| +204T>C, 16513T > T/C§ | 1 | — | — | — | — | |||
| +263A > G/A, 8CT6C,* 9CT6C,* 10CT6C,* 402A > G/A§ | 1 | — | — | — | — | |||
| +8CT6C,* 9CT6C,* 10CT6C,* 16454C > C/T§ | 1 | — | — | — | — | |||
| +9CT6C,* 10CT6C,* 16338A > A/G§ | 1 | — | — | — | — | |||
| +421T > T/C,§ 493A > A/G | 1 | — | — | — | — | |||
| +470A > A/G§ | 1 | — | — | — | — | |||
| +523A > G/A,§ 16494C > T/C§ | 1 | — | — | — | — | |||
| +16026C > T§ | 1 | — | — | — | — | |||
| +16081A > A/G | 1 | — | — | — | — | |||
| +16095C > T§ | 1 | — | — | — | — | |||
| +16143T > T/C,§ 16450G > G/A§ | 1 | — | — | — | — | |||
| +16184C > C/A | 1 | — | — | — | — | |||
| +16196G > G/A | 1 | — | — | — | — | |||
| +16285A > A/G§ | 1 | — | — | — | — | |||
| +16293A > A/G | 1 | — | — | — | — | |||
| +16343A > A/G | 1 | — | — | — | — | |||
| +16356T > T/C | 1 | — | — | — | — | |||
| +16454C > C/T§ | 1 | — | — | — | — | |||
| +16507C > C/A§ | 1 | — | — | — | — | |||
| 3 (36/M) | ||||||||
| CD34+ cells | ||||||||
| Aggregate sequence | 59 | — | — | — | — | |||
| Nonaggregate sequence | — | 34 | 36.6 | 11 | 11.8 | |||
| +8CT6C,* 9CT6C* | 19 | — | — | — | — | |||
| +16093T > C/T | 4 | — | — | — | — | |||
| +7CT6C,* 8CT6C* | 2 | — | — | — | — | |||
| +30T > T/G§ | 1 | — | — | — | — | |||
| +7CT6C,* 8CT6C,* 9CT6C* | 1 | — | — | — | — | |||
| +8CT6C,* 9CT6C,* 10CT6C* | 1 | — | — | — | — | |||
| +8CT6C,* 9CT6C,* 16093T > C/T | 1 | — | — | — | — | |||
| +16063T > T/C | 1 | — | — | — | — | |||
| +16093T > T/C | 1 | — | — | — | — | |||
| +16259C > C/T | 1 | — | — | — | — | |||
| +16305A > A/G | 1 | — | — | — | — | |||
| +16309A > A/G | 1 | — | — | — | — | |||
| T cells | ||||||||
| Aggregate sequence | 41 | — | — | — | — | |||
| Nonaggregate sequence | — | 45 | 52.3 | 18 | 20.9 | |||
| +8CT6C,* 9CT6C* | 23 | — | — | — | — | |||
| +8CT6C,* 9CT6C,* 10CT6C* | 3 | — | — | — | — | |||
| +9CT6C,* 10CT6C* | 3 | — | — | — | — | |||
| +9CT6C,* 10CT6C,* 11CT6C* | 2 | — | — | — | — | |||
| +96C > C/T,§ 155T > T/C§ | 1 | — | — | — | — | |||
| +118G > G/A,§ 8CT6C,* 9CT6C,* 10CT6C,* 16224C > T/C | 1 | — | — | — | — | |||
| +143G > G/A, 8CT6C,* 9CT6C,* 16093T† | 1 | — | — | — | — | |||
| +150C > C/T, 8CT6C,* 9CT6C,* 16093T† | 1 | — | — | — | — | |||
| +309C > C/T, 8CT6C,* 9CT6C* | 1 | — | — | — | — | |||
| +8CT6C,* 9CT6C,* 10CT6C* | 1 | — | — | — | — | |||
| +8CT6C,* 9CT6C,* 16442C > C/T§ | 1 | — | — | — | — | |||
| +9CT6C,* 10CT6C,* 11CT6C,* 12CT6C* | 1 | — | — | — | — | |||
| +399T > T/C,§ 16200A > A/G§, 16307A > A/G§ | 1 | — | — | — | — | |||
| +529G > A/G§ | 1 | — | — | — | — | |||
| +16093T > T/C, 16293A > G/A | 1 | — | — | — | — | |||
| +16292C > C/T | 1 | — | — | — | — | |||
| +16401C > C/T§ | 1 | — | — | — | — | |||
| +16410C > C/T§ | 1 | — | — | — | — | |||
| B cells | ||||||||
| Aggregate sequence | 48 | — | — | — | — | |||
| Nonaggregate sequence | — | 46 | 48.9 | 17 | 18.1 | |||
| +8CT6C,* 9CT6C* | 29 | — | — | — | — | |||
| +8CT6C,* 9CT6C,* 10CT6C* | 2 | — | — | — | — | |||
| +18C > C/T§ | 1 | — | — | — | — | |||
| +103G > A | 1 | — | — | — | — | |||
| +103G > G/A, 8CT6C,* 9CT6C,* 16390G > A/G | 1 | — | — | — | — | |||
| +200A > A/G | 1 | — | — | — | — | |||
| +283A > A/G§ | 1 | — | — | — | — | |||
| +7CT6C,* 16261C > T | 1 | — | — | — | — | |||
| +7CT6C,* 8CT6C* | 1 | — | — | — | — | |||
| +7CT6C,* 8CT6C,* 9CT6C* | 1 | — | — | — | — | |||
| +8CT6C,* 9CT6C,* 16222C > C/T | 1 | — | — | — | — | |||
| +8CT6C,* 9CT6C,* 10CT6C,* 16456G > G/A | 1 | — | — | — | — | |||
| +16092T > T/C | 1 | — | — | — | — | |||
| +16093T > T/C | 1 | — | — | — | — | |||
| +16390G > A | 1 | — | — | — | — | |||
| +16400C > C/T | 1 | — | — | — | — | |||
| +16423A > A/G§ | 1 | — | — | — | — | |||
| Granulocytes | ||||||||
| Aggregate sequence | 42 | — | — | — | — | |||
| Nonaggregate sequence | — | 30 | 41.7 | 25 | 34.7 | |||
| +8CT6C,* 9CT6C* | 6 | — | — | — | — | |||
| +116A > A/G§ | 1 | — | — | — | — | |||
| +127T > T/C, 16357T > T/A§ | 1 | — | — | — | — | |||
| +162C > C/T§ | 1 | — | — | — | — | |||
| +181A > A/G§ | 1 | — | — | — | — | |||
| +7CT6C,* 8CT6C* | 1 | — | — | — | — | |||
| +8CT6C,* 9CT6C,* 16561A > A/G§ | 1 | — | — | — | — | |||
| +318T > T/C | 1 | — | — | — | — | |||
| +437C > T/C,§ 16197C > C/T§ | 1 | — | — | — | — | |||
| +502C > T/C | 1 | — | — | — | — | |||
| +533A > G§ | 1 | — | — | — | — | |||
| +570C > C/T§ | 1 | — | — | — | — | |||
| +16064T > T/C,§ 16445T > T/C§ | 1 | — | — | — | — | |||
| +16075T > T/G§ | 1 | — | — | — | — | |||
| +16109A > A/C§ | 1 | — | — | — | — | |||
| +16129G > A/G | 1 | — | — | — | — | |||
| +16132A > A/G§ | 1 | — | — | — | — | |||
| +16149A > A/G§ | 1 | — | — | — | — | |||
| +16339C > T/C§ | 1 | — | — | — | — | |||
| +16350A > A/G | 1 | — | — | — | — | |||
| +16357T > T/C | 1 | — | — | — | — | |||
| +16365C > C/T | 1 | — | — | — | — | |||
| +16396T > T/C§ | 1 | — | — | — | — | |||
| +16411C > C/T§ | 1 | — | — | — | — | |||
| +16457G > G/A§ | 1 | — | — | — | — | |||
| 4 (55/M) | ||||||||
| CD34+ cells | ||||||||
| Aggregate sequence | 52 | — | — | — | — | |||
| Nonaggregate sequence | 41 | 44.1 | 11 | 11.8 | ||||
| +264C > T | 12 | — | — | — | — | |||
| +514insCA† | 10 | — | — | — | — | |||
| +7CT6C,* 8CT6C* | 5 | — | — | — | — | |||
| +264C > T/C | 2 | — | — | — | — | |||
| +514insCA, 514-515delCA‡ | 2 | — | — | — | — | |||
| +43C > C/T,§ 264C > T | 1 | — | — | — | — | |||
| +146T > C/T | 1 | — | — | — | — | |||
| +146T > C/T, 514insCA† | 1 | — | — | — | — | |||
| +146T > T/C, 514insCA† | 1 | — | — | — | — | |||
| +150C > T/C, 514insCA, 514-515delCA‡ | 1 | — | — | — | — | |||
| +264C > C/T | 1 | — | — | — | — | |||
| +264C > T, 16327C > C/T | 1 | — | — | — | — | |||
| +7CT6C,* 8CT6C,* 514insCA† | 1 | — | — | — | — | |||
| +514insCA, 514-515delCA‡, 16287C > C/T | 1 | — | — | — | — | |||
| +16156G > G/A§ | 1 | — | — | — | — | |||
| T cells | ||||||||
| Aggregate sequence | 50 | — | — | — | — | |||
| Nonaggregate sequence | — | 43 | 46.2 | 25 | 26.9 | |||
| +514insCA† | 13 | — | — | — | — | |||
| +264C > T | 5 | — | — | — | — | |||
| +3T > T/C,§ 264C > C/T, 16518G > G/A§ | 1 | — | — | — | — | |||
| +146T > C, 514insCA† | 1 | — | — | — | — | |||
| +178A > A/G§ | 1 | — | — | — | — | |||
| +204T > C | 1 | — | — | — | — | |||
| +214A > G | 1 | — | — | — | — | |||
| +217T > T/C, 6CT6C,* 7CT6C* | 1 | — | — | — | — | |||
| +264C > C/T | 1 | — | — | — | — | |||
| +264C > T 401T > T/C,§ 425A > A/G§ | 1 | — | — | — | — | |||
| +6CT6C,* 7CT6C* | 1 | — | — | — | — | |||
| +7CT6C,* 8CT6C* | 1 | — | — | — | — | |||
| +514insCA, 514-515delCA‡ | 1 | — | — | — | — | |||
| +514-515delCA, 514insCA,‡ 16200A > A/G§ | 1 | — | — | — | — | |||
| +514insCA,† 16292C > T | 1 | — | — | — | — | |||
| +514insCA,† 16206A > A/G,§ 16452T > T/C§ | 1 | — | — | — | — | |||
| +514insCA,† 16569G > G/A§ | 1 | — | — | — | — | |||
| +526G > G/A§ | 1 | — | — | — | — | |||
| +16155A > A/G | 1 | — | — | — | — | |||
| +16174C > C/T | 1 | — | — | — | — | |||
| +16206A > A/G,§ 16328C > C/T | 1 | — | — | — | — | |||
| +16292C > C/T | 1 | — | — | — | — | |||
| +16296C† | 1 | — | — | — | — | |||
| +16299A > A/G | 1 | — | — | — | — | |||
| +16385A > A/G§ | 1 | — | — | — | — | |||
| +16428G > G/A§ | 1 | — | — | — | — | |||
| +16537C > C/T§ | 1 | — | — | — | — | |||
| B cells | ||||||||
| Aggregate sequence | 56 | — | — | — | — | |||
| Nonaggregate sequence | 37 | 39.8 | 14 | 15.1 | ||||
| +264C > T | 14 | — | — | — | — | |||
| +514insCA† | 9 | — | — | — | — | |||
| +6C > C/T,§ 514insCA† | 1 | — | — | — | — | |||
| +146T > C, 514insCA† | 1 | — | — | — | — | |||
| +152T > C, 170C > C/T§ | 1 | — | — | — | — | |||
| +169A > A/G§ | 1 | — | — | — | — | |||
| +214A > G | 1 | — | — | — | — | |||
| +237A > A/G, 264C > T | 1 | — | — | — | — | |||
| +264C > T/C | 1 | — | — | — | — | |||
| +264C > T, 7CT6C,* 8CT6C* | 1 | — | — | — | — | |||
| +264C > T, 16338A > A/G§ | 1 | — | — | — | — | |||
| +7CT6C* 8CT6C* | 1 | — | — | — | — | |||
| +6CT6C,* 7CT6C,* 16338A > A/G§ | 1 | — | — | — | — | |||
| +514insCA, 514-515delCA‡ | 1 | — | — | — | — | |||
| +514insCA,† 7CT6C,* 8CT6C* | 1 | — | — | — | — | |||
| +514insCA,† 16382C > C/T§ | 1 | — | — | — | — | |||
| Granulocytes | ||||||||
| Aggregate sequence | 36 | — | — | — | — | |||
| Nonaggregate sequence | — | 40 | 52.6 | 25 | 32.9 | |||
| +514insCA† | 11 | — | — | — | — | |||
| +264C > T | 5 | — | — | — | — | |||
| +146T > C | 1 | — | — | — | — | |||
| +146T > C, 514insCA† | 1 | — | — | — | — | |||
| +146T > T/C, 514insCA† | 1 | — | — | — | — | |||
| +146T > C, 514insCA†, 16292C > C/T | 1 | — | — | — | — | |||
| +174C > T,§ 514insCA† | 1 | — | — | — | — | |||
| +188A > A/G, 264C > C/T, 420C > C/T | 1 | — | — | — | — | |||
| +210A > T/A§ | 1 | — | — | — | — | |||
| +215A > G, 514insCA,† 16434G > G/A§ | 1 | — | — | — | — | |||
| +264C > T, 407T > T/C§ | 1 | — | — | — | — | |||
| +264C > T, 16415A > A/G§ | 1 | — | — | — | — | |||
| +294T > T/C, 514-515delCA, 514insCA‡ | 1 | — | — | — | — | |||
| +7CT6C,* 8CT6C* | 1 | — | — | — | — | |||
| +7CT6C,* 8CT6C,* 514insCA† | 1 | — | — | — | — | |||
| +8CT6C* | 1 | — | — | — | — | |||
| +368A > A/G,§ 523A > A/G§ | 1 | — | — | — | — | |||
| +382C > T§ | 1 | — | — | — | — | |||
| +514insCA, 514-515delCA‡, 16362T > T/C | 1 | — | — | — | — | |||
| +536C > T/C§ | 1 | — | — | — | — | |||
| +16096G > T,§ 16379C > C/T§ | 1 | — | — | — | — | |||
| +16166A > A/del§ | 1 | — | — | — | — | |||
| +16189T > T/del§ | 1 | — | — | — | — | |||
| +16196G > G/A, 16224T > T/C | 1 | — | — | — | — | |||
| +16199T > T/C,§ 16334T > T/C§ | 1 | — | — | — | — | |||
| +16314A > A/G | 1 | — | — | — | — | |||
| 5 (35/F) | ||||||||
| CD34+ cells | ||||||||
| Aggregate sequence | 59 | — | — | — | — | |||
| Nonaggregate sequence | — | 34 | 36.6 | 11 | 11.8 | |||
| +8CT6C,* 9CT6C* | 19 | — | — | — | — | |||
| +7CT6C,* 8CT6C* | 4 | — | — | — | — | |||
| +200A > A/G | 2 | — | — | — | — | |||
| +146T > C/T | 1 | — | — | — | — | |||
| +186C > C/T | 1 | — | — | — | — | |||
| +200A > G | 1 | — | — | — | — | |||
| +200A > A/G, 7CT6C,* 8CT6C,* 16362T > C/T | 1 | — | — | — | — | |||
| +200A > G, 16326A > A/G | 1 | — | — | — | — | |||
| +204T > C | 1 | — | — | — | — | |||
| +220T > T/C§ | 1 | — | — | — | — | |||
| +263A > G/A | 1 | — | — | — | — | |||
| +385A > G | 1 | — | — | — | — | |||
| T cells | ||||||||
| Aggregate sequence | 71 | — | — | — | — | |||
| Nonaggregate sequence | — | 25 | 26 | 15 | 15.6 | |||
| +8CT6C,* 9CT6C* | 10 | — | — | — | — | |||
| +7CT6C,* 8CT6C,* 9CT6C* | 2 | — | — | — | — | |||
| +14T > T/C§ | 1 | — | — | — | — | |||
| +134T > T/C,§ 7CT6C,* 8CT6C* | 1 | — | — | — | — | |||
| +200A > G | 1 | — | — | — | — | |||
| +228G > A/G | 1 | — | — | — | — | |||
| +7CT6C* | 1 | — | — | — | — | |||
| +7CT6C,* 8CT6C,* 16140T > T/C | 1 | — | — | — | — | |||
| +8CT6C,* 9CT6C,* 16092T > T/C | 1 | — | — | — | — | |||
| +8CT6C,* 9CT6C,* 16212A > A/G | 1 | — | — | — | — | |||
| +8CT6C,* 9CT6C,* 16360C > C/T | 1 | — | — | — | — | |||
| +316G > G/A, 16111C > C/A§ | 1 | — | — | — | — | |||
| +16225C > C/T§ | 1 | — | — | — | — | |||
| +16230A > A/G | 1 | — | — | — | — | |||
| +16463A > A/G | 1 | — | — | — | — | |||
| B cells | ||||||||
| Aggregate sequence | 61 | — | — | — | — | |||
| Nonaggregate sequence | — | 30 | 33 | 17 | 18.7 | |||
| +8CT6C,* 9CT6C* | 11 | — | — | — | — | |||
| +7CT6C,* 8CT6C* | 3 | — | — | — | — | |||
| +146T > T/C | 2 | — | — | — | — | |||
| +20T > T/C§ | 1 | — | — | — | — | |||
| +105C > C/T,§ 8CT6C,* 9CT6C* | 1 | — | — | — | — | |||
| +200A > A/G | 1 | — | — | — | — | |||
| +204T > C, 8CT6C,* 9CT6C,* 16278C > C/T | 1 | — | — | — | — | |||
| +8CT6C,* 9CT6C,* 16072C > C/G§ | 1 | — | — | — | — | |||
| +8CT6C,* 9CT6C,* 10CT6C* | 1 | — | — | — | — | |||
| +16151C > C/T§ | 1 | — | — | — | — | |||
| +16166A > A/del§ | 1 | — | — | — | — | |||
| +16213G > G/A | 1 | — | — | — | — | |||
| +16254A > A/del§ | 1 | — | — | — | — | |||
| +16275A > A/T§ | 1 | — | — | — | — | |||
| +16292C > T/C§ | 1 | — | — | — | — | |||
| +16310G > G/A | 1 | — | — | — | — | |||
| +16340A > A/G§ | 1 | — | — | — | — | |||
| Granulocytes | ||||||||
| Aggregate sequence | 49 | — | — | — | — | |||
| Nonaggregate sequence | — | 33 | 40.2 | 29 | 35.4 | |||
| +8CT6C,* 9CT6C* | 2 | — | — | — | — | |||
| +7CT6C,* 8CT6C* | 2 | — | — | — | — | |||
| +68G > G/A | 1 | — | — | — | — | |||
| +71G > G/del§ | 1 | — | — | — | — | |||
| +80C/T,§ 164C/T§ | 1 | — | — | — | — | |||
| +82A > A/G,§ 200A > G | 1 | — | — | — | — | |||
| +93A > A/G, 16185C > T | 1 | — | — | — | — | |||
| +122C > T§ | 1 | — | — | — | — | |||
| +139T > C/T§ | 1 | — | — | — | — | |||
| +172T > T/O§ | 1 | — | — | — | — | |||
| +199T > C, 16217T > T/C, 16439C > T§ | 1 | — | — | — | — | |||
| +200A > G | 1 | — | — | — | — | |||
| +200A > G/A | 1 | — | — | — | — | |||
| +200A > A/G | 1 | — | — | — | — | |||
| +200A > G, 223T > T/C | 1 | — | — | — | — | |||
| +229G > C§ | 1 | — | — | — | — | |||
| +266T > T/C | 1 | — | — | — | — | |||
| +304C > C/T§ | 1 | — | — | — | — | |||
| +310T > C/T | 1 | — | — | — | — | |||
| +378C > C/T,§ 16189T > T/C | 1 | — | — | — | — | |||
| +385A > A/del§ | 1 | — | — | — | — | |||
| +457C > C/T§, 517A > G§ | 1 | — | — | — | — | |||
| +16112C > C/T,§ 16420A > G/A§ | 1 | — | — | — | — | |||
| +16113A > G§ | 1 | — | — | — | — | |||
| +16123T > T/C§ | 1 | — | — | — | — | |||
| +16285A > A/G§ | 1 | — | — | — | — | |||
| +16305A > A/G | 1 | — | — | — | — | |||
| +16325T > T/C | 1 | — | — | — | — | |||
| +16350A > A/G | 1 | — | — | — | — | |||
| +16426C > T§ | 1 | — | — | — | — | |||
| +16527C > C/T§ | 1 | — | — | — | — | |||
. | . | Heterogeneity . | . | . | . | |||
|---|---|---|---|---|---|---|---|---|
| Donor no. (age, y/sex) and mtDNA sequence differences from aggregate sequence . | Cell no. . | Frequency . | . | Unique . | . | |||
| . | . | No. . | % . | No. . | % . | |||
| 1 (48/F) | ||||||||
| CD34+ cells | ||||||||
| Aggregate sequence | 53 | — | — | — | — | |||
| Nonaggregate sequence | — | 32 | 37.6 | 13 | 15.3 | |||
| +8CT6C,* 9CT6C* | 20 | — | — | — | — | |||
| +71G > G/del,§ 8CT6C,* 9CT6C* | 1 | — | — | — | — | |||
| +204T > C | 1 | — | — | — | — | |||
| +7CT6C,* 8CT6C,* 16192C > T/C | 1 | — | — | — | — | |||
| +8CT6C,* 9CT6C,* 16207A > G/A | 1 | — | — | — | — | |||
| +8CT6C,* 9CT6C,* 16355C > C/T | 1 | — | — | — | — | |||
| +8CT6C* 9CT6C,* 10CT6C* | 1 | — | — | — | — | |||
| +8CT6C,* 9CT6C,* 10CT6C,* 16129G > G/A | 1 | — | — | — | — | |||
| +551A > G§ | 1 | — | — | — | — | |||
| +556A > G§ | 1 | — | — | — | — | |||
| +16129G > A/G | 1 | — | — | — | — | |||
| +16192C > T/C | 1 | — | — | — | — | |||
| +16482A > A/G, 16525A > G§ | 1 | — | — | — | — | |||
| T cells | ||||||||
| Aggregate sequence | 53 | — | — | — | — | |||
| Nonaggregate sequence | — | 34 | 39.1 | 20 | 23 | |||
| +8CT6C,* 9CT6C* | 14 | — | — | — | — | |||
| +8CT6C,* 9CT6C,* 10CT6C* | 2 | — | — | — | — | |||
| +57T > T/C,§ 8CT6C,* 9CT6C* | 1 | — | — | — | — | |||
| +71G > del,§ 8CT6C,* 9CT6C,* 16132A > A/G§ | 1 | — | — | — | — | |||
| +143G > G/A, 16278C > C/T | 1 | — | — | — | — | |||
| +162C > C/T,§ 16381T > T/C | 1 | — | — | — | — | |||
| +246T > T/C | 1 | — | — | — | — | |||
| +7CT6C,* 8CT6C,* 16390G > A | 1 | — | — | — | — | |||
| +8CT6C,* 9CT6C,* 16149A > A/G§ | 1 | — | — | — | — | |||
| +8CT6C,* 9CT6C,* 16192C† | 1 | — | — | — | — | |||
| +9CT6C,* 10CT6C* | 1 | — | — | — | — | |||
| +9CT6C,* 10CT6C,* 16184C > T | 1 | — | — | — | — | |||
| +9CT6C,* 10CT6C,* 11CT6C* | 1 | — | — | — | — | |||
| +526G > G/A§ | 1 | — | — | — | — | |||
| +16210A > A/G§ | 1 | — | — | — | — | |||
| +16222C > T | 1 | — | — | — | — | |||
| +16222C > C/T | 1 | — | — | — | — | |||
| +16267C > C/T§ | 1 | — | — | — | — | |||
| +16277A > A/G§ | 1 | — | — | — | — | |||
| +16390G > G/A | 1 | — | — | — | — | |||
| B cells | ||||||||
| Aggregate sequence | 69 | — | — | — | — | |||
| Nonaggregate sequence | — | 17 | 19.8 | 11 | 12.8 | |||
| +8CT6C,* 9CT6C* | 6 | — | — | — | — | |||
| +7CT6C,* 8CT6C* | 2 | — | — | — | — | |||
| +7CT6C* | 1 | — | — | — | — | |||
| +189A > G | 1 | — | — | — | — | |||
| +204T > C | 1 | — | — | — | — | |||
| +7CT6C,* 16262C > C/T | 1 | — | — | — | — | |||
| +16112C > C/A§ | 1 | — | — | — | — | |||
| +16147C > T | 1 | — | — | — | — | |||
| +16148C > C/T | 1 | — | — | — | — | |||
| +16189T > C, 16190C > C/T | 1 | — | — | — | — | |||
| +16390G > A | 1 | — | — | — | — | |||
| Granulocytes | ||||||||
| Aggregate sequence | 27 | — | — | — | — | |||
| Nonaggregate sequence | — | 37 | 57.8 | 27 | 42.2 | |||
| +8CT6C,* 9CT6C* | 8 | — | — | — | — | |||
| +7CT6C,* 8CT6C* | 4 | — | — | — | — | |||
| +37A > G/A§ | 1 | — | — | — | — | |||
| +61C > A/C§ | 1 | — | — | — | — | |||
| +72T > T/C | 1 | — | — | — | — | |||
| +96C > T/C,§ 8CT6C,* 9CT6C* | 1 | — | — | — | — | |||
| +141C > C/T§ | 1 | — | — | — | — | |||
| +168T > T/C§ | 1 | — | — | — | — | |||
| +168T > T/C,§ 217T > T/C | 1 | — | — | — | — | |||
| +181A > A/G§ | 1 | — | — | — | — | |||
| +192T > T/C, 8CT6C,* 9CT6C,* 16203A > A/G | 1 | — | — | — | — | |||
| +204T > T/C, 16111C > G/C§ | 1 | — | — | — | — | |||
| +221G > A/G§ | 1 | — | — | — | — | |||
| +265T > T/C, 16213G > A, 16363C > C/T§ | 1 | — | — | — | — | |||
| +7CT6C,* 16445T > T/C§ | 1 | — | — | — | — | |||
| +7CT6C,* 8CT6C,* 16227A > A/G | 1 | — | — | — | — | |||
| +8CT6C,* 9CT6C,* 16371A > A/G§ | 1 | — | — | — | — | |||
| +316G > G/A | 1 | — | — | — | — | |||
| +514-515delCA | 1 | — | — | — | — | |||
| +16036G > G/del§ | 1 | — | — | — | — | |||
| +16064T > T/C§ | 1 | — | — | — | — | |||
| +16066A > A/G | 1 | — | — | — | — | |||
| +16086T > C | 1 | — | — | — | — | |||
| +16106G > G/C§ | 1 | — | — | — | — | |||
| +16120A > A/G§ | 1 | — | — | — | — | |||
| +16344C > T | 1 | — | — | — | — | |||
| +16468T > T/C§ | 1 | — | — | — | — | |||
| 2 (44/M) | ||||||||
| CD34+ cells | ||||||||
| Aggregate sequence | 60 | — | — | — | — | |||
| Nonaggregate sequence | — | 32 | 34.8 | 15 | 16.3 | |||
| +8CT6C,* 9CT6C,* 10CT6C* | 12 | — | — | — | — | |||
| +9CT6C,* 10CT6C* | 5 | — | — | — | — | |||
| +8CT6C* | 3 | — | — | — | — | |||
| +64C > C/T | 1 | — | — | — | — | |||
| +228G > A/G | 1 | — | — | — | — | |||
| +236T > T/C | 1 | — | — | — | — | |||
| +9CT6C,* 10CT6C,* 11CT6C* | 1 | — | — | — | — | |||
| +385A > G | 1 | — | — | — | — | |||
| +468C > C/A | 1 | — | — | — | — | |||
| +16140T > T/C, 16411C > C/T§ | 1 | — | — | — | — | |||
| +16269A > A/G | 1 | — | — | — | — | |||
| +16273G > G/A, 16544T > C§ | 1 | — | — | — | — | |||
| +16311T > T/C | 1 | — | — | — | — | |||
| +16321C > C/T | 1 | — | — | — | — | |||
| +16431C > C/T§ | 1 | — | — | — | — | |||
| T cells | ||||||||
| Aggregate sequence | 77 | — | — | — | — | |||
| Nonaggregate sequence | — | 17 | 18.1 | 6 | 6.4 | |||
| +8CT6C,* 9CT6C,* 10CT6C* | 10 | — | — | — | — | |||
| +8CT6C* | 3 | — | — | — | — | |||
| +204T > C/T | 1 | — | — | — | — | |||
| +9CT6C,* 10CT6C,* 11CT6C* | 1 | — | — | — | — | |||
| +487A > A/G§ | 1 | — | — | — | — | |||
| +16399A > A/G | 1 | — | — | — | — | |||
| B cells | ||||||||
| Aggregate sequence | 48 | — | — | — | — | |||
| Nonaggregate sequence | — | 30 | 38.5 | 14 | 17.9 | |||
| +8CT6C,* 9CT6C,* 10CT6C* | 13 | — | — | — | — | |||
| +8CT6C* | 5 | — | — | — | — | |||
| +8CT6C,* 9CT6C,* 10CT6C,* 16093T > C | 1 | — | — | — | — | |||
| +9CT6C,* 10CT6C* | 1 | — | — | — | — | |||
| +368A > G§ | 1 | — | — | — | — | |||
| +465C > C/T§ | 1 | — | — | — | — | |||
| +16131T > T/C | 1 | — | — | — | — | |||
| +16170A > A/G | 1 | — | — | — | — | |||
| +16183A > G | 1 | — | — | — | — | |||
| +16183A > A/del | 1 | — | — | — | — | |||
| +16191C > C/T | 1 | — | — | — | — | |||
| +16353C > C/T | 1 | — | — | — | — | |||
| +16399A > G | 1 | — | — | — | — | |||
| +16423A > A/G§ | 1 | — | — | — | — | |||
| Granulocytes | ||||||||
| Aggregate sequence | 44 | — | — | — | — | |||
| Nonaggregate sequence | — | 38 | 46.3 | 26 | 31.7 | |||
| +9CT6C,* 10CT6C* | 7 | — | — | — | — | |||
| +8CT6C* | 4 | — | — | — | — | |||
| +8CT6C,* 9CT6C,* 10CT6C* | 3 | — | — | — | — | |||
| +122C > C/T§ | 2 | — | — | — | — | |||
| +49A > A/G,§ 8CT6C,* 16443T > T/C§ | 1 | — | — | — | — | |||
| +108A > G/A, 16335A > T/A§ | 1 | — | — | — | — | |||
| +119T > T/C, 16193C > C/T | 1 | — | — | — | — | |||
| +204T>C, 16513T > T/C§ | 1 | — | — | — | — | |||
| +263A > G/A, 8CT6C,* 9CT6C,* 10CT6C,* 402A > G/A§ | 1 | — | — | — | — | |||
| +8CT6C,* 9CT6C,* 10CT6C,* 16454C > C/T§ | 1 | — | — | — | — | |||
| +9CT6C,* 10CT6C,* 16338A > A/G§ | 1 | — | — | — | — | |||
| +421T > T/C,§ 493A > A/G | 1 | — | — | — | — | |||
| +470A > A/G§ | 1 | — | — | — | — | |||
| +523A > G/A,§ 16494C > T/C§ | 1 | — | — | — | — | |||
| +16026C > T§ | 1 | — | — | — | — | |||
| +16081A > A/G | 1 | — | — | — | — | |||
| +16095C > T§ | 1 | — | — | — | — | |||
| +16143T > T/C,§ 16450G > G/A§ | 1 | — | — | — | — | |||
| +16184C > C/A | 1 | — | — | — | — | |||
| +16196G > G/A | 1 | — | — | — | — | |||
| +16285A > A/G§ | 1 | — | — | — | — | |||
| +16293A > A/G | 1 | — | — | — | — | |||
| +16343A > A/G | 1 | — | — | — | — | |||
| +16356T > T/C | 1 | — | — | — | — | |||
| +16454C > C/T§ | 1 | — | — | — | — | |||
| +16507C > C/A§ | 1 | — | — | — | — | |||
| 3 (36/M) | ||||||||
| CD34+ cells | ||||||||
| Aggregate sequence | 59 | — | — | — | — | |||
| Nonaggregate sequence | — | 34 | 36.6 | 11 | 11.8 | |||
| +8CT6C,* 9CT6C* | 19 | — | — | — | — | |||
| +16093T > C/T | 4 | — | — | — | — | |||
| +7CT6C,* 8CT6C* | 2 | — | — | — | — | |||
| +30T > T/G§ | 1 | — | — | — | — | |||
| +7CT6C,* 8CT6C,* 9CT6C* | 1 | — | — | — | — | |||
| +8CT6C,* 9CT6C,* 10CT6C* | 1 | — | — | — | — | |||
| +8CT6C,* 9CT6C,* 16093T > C/T | 1 | — | — | — | — | |||
| +16063T > T/C | 1 | — | — | — | — | |||
| +16093T > T/C | 1 | — | — | — | — | |||
| +16259C > C/T | 1 | — | — | — | — | |||
| +16305A > A/G | 1 | — | — | — | — | |||
| +16309A > A/G | 1 | — | — | — | — | |||
| T cells | ||||||||
| Aggregate sequence | 41 | — | — | — | — | |||
| Nonaggregate sequence | — | 45 | 52.3 | 18 | 20.9 | |||
| +8CT6C,* 9CT6C* | 23 | — | — | — | — | |||
| +8CT6C,* 9CT6C,* 10CT6C* | 3 | — | — | — | — | |||
| +9CT6C,* 10CT6C* | 3 | — | — | — | — | |||
| +9CT6C,* 10CT6C,* 11CT6C* | 2 | — | — | — | — | |||
| +96C > C/T,§ 155T > T/C§ | 1 | — | — | — | — | |||
| +118G > G/A,§ 8CT6C,* 9CT6C,* 10CT6C,* 16224C > T/C | 1 | — | — | — | — | |||
| +143G > G/A, 8CT6C,* 9CT6C,* 16093T† | 1 | — | — | — | — | |||
| +150C > C/T, 8CT6C,* 9CT6C,* 16093T† | 1 | — | — | — | — | |||
| +309C > C/T, 8CT6C,* 9CT6C* | 1 | — | — | — | — | |||
| +8CT6C,* 9CT6C,* 10CT6C* | 1 | — | — | — | — | |||
| +8CT6C,* 9CT6C,* 16442C > C/T§ | 1 | — | — | — | — | |||
| +9CT6C,* 10CT6C,* 11CT6C,* 12CT6C* | 1 | — | — | — | — | |||
| +399T > T/C,§ 16200A > A/G§, 16307A > A/G§ | 1 | — | — | — | — | |||
| +529G > A/G§ | 1 | — | — | — | — | |||
| +16093T > T/C, 16293A > G/A | 1 | — | — | — | — | |||
| +16292C > C/T | 1 | — | — | — | — | |||
| +16401C > C/T§ | 1 | — | — | — | — | |||
| +16410C > C/T§ | 1 | — | — | — | — | |||
| B cells | ||||||||
| Aggregate sequence | 48 | — | — | — | — | |||
| Nonaggregate sequence | — | 46 | 48.9 | 17 | 18.1 | |||
| +8CT6C,* 9CT6C* | 29 | — | — | — | — | |||
| +8CT6C,* 9CT6C,* 10CT6C* | 2 | — | — | — | — | |||
| +18C > C/T§ | 1 | — | — | — | — | |||
| +103G > A | 1 | — | — | — | — | |||
| +103G > G/A, 8CT6C,* 9CT6C,* 16390G > A/G | 1 | — | — | — | — | |||
| +200A > A/G | 1 | — | — | — | — | |||
| +283A > A/G§ | 1 | — | — | — | — | |||
| +7CT6C,* 16261C > T | 1 | — | — | — | — | |||
| +7CT6C,* 8CT6C* | 1 | — | — | — | — | |||
| +7CT6C,* 8CT6C,* 9CT6C* | 1 | — | — | — | — | |||
| +8CT6C,* 9CT6C,* 16222C > C/T | 1 | — | — | — | — | |||
| +8CT6C,* 9CT6C,* 10CT6C,* 16456G > G/A | 1 | — | — | — | — | |||
| +16092T > T/C | 1 | — | — | — | — | |||
| +16093T > T/C | 1 | — | — | — | — | |||
| +16390G > A | 1 | — | — | — | — | |||
| +16400C > C/T | 1 | — | — | — | — | |||
| +16423A > A/G§ | 1 | — | — | — | — | |||
| Granulocytes | ||||||||
| Aggregate sequence | 42 | — | — | — | — | |||
| Nonaggregate sequence | — | 30 | 41.7 | 25 | 34.7 | |||
| +8CT6C,* 9CT6C* | 6 | — | — | — | — | |||
| +116A > A/G§ | 1 | — | — | — | — | |||
| +127T > T/C, 16357T > T/A§ | 1 | — | — | — | — | |||
| +162C > C/T§ | 1 | — | — | — | — | |||
| +181A > A/G§ | 1 | — | — | — | — | |||
| +7CT6C,* 8CT6C* | 1 | — | — | — | — | |||
| +8CT6C,* 9CT6C,* 16561A > A/G§ | 1 | — | — | — | — | |||
| +318T > T/C | 1 | — | — | — | — | |||
| +437C > T/C,§ 16197C > C/T§ | 1 | — | — | — | — | |||
| +502C > T/C | 1 | — | — | — | — | |||
| +533A > G§ | 1 | — | — | — | — | |||
| +570C > C/T§ | 1 | — | — | — | — | |||
| +16064T > T/C,§ 16445T > T/C§ | 1 | — | — | — | — | |||
| +16075T > T/G§ | 1 | — | — | — | — | |||
| +16109A > A/C§ | 1 | — | — | — | — | |||
| +16129G > A/G | 1 | — | — | — | — | |||
| +16132A > A/G§ | 1 | — | — | — | — | |||
| +16149A > A/G§ | 1 | — | — | — | — | |||
| +16339C > T/C§ | 1 | — | — | — | — | |||
| +16350A > A/G | 1 | — | — | — | — | |||
| +16357T > T/C | 1 | — | — | — | — | |||
| +16365C > C/T | 1 | — | — | — | — | |||
| +16396T > T/C§ | 1 | — | — | — | — | |||
| +16411C > C/T§ | 1 | — | — | — | — | |||
| +16457G > G/A§ | 1 | — | — | — | — | |||
| 4 (55/M) | ||||||||
| CD34+ cells | ||||||||
| Aggregate sequence | 52 | — | — | — | — | |||
| Nonaggregate sequence | 41 | 44.1 | 11 | 11.8 | ||||
| +264C > T | 12 | — | — | — | — | |||
| +514insCA† | 10 | — | — | — | — | |||
| +7CT6C,* 8CT6C* | 5 | — | — | — | — | |||
| +264C > T/C | 2 | — | — | — | — | |||
| +514insCA, 514-515delCA‡ | 2 | — | — | — | — | |||
| +43C > C/T,§ 264C > T | 1 | — | — | — | — | |||
| +146T > C/T | 1 | — | — | — | — | |||
| +146T > C/T, 514insCA† | 1 | — | — | — | — | |||
| +146T > T/C, 514insCA† | 1 | — | — | — | — | |||
| +150C > T/C, 514insCA, 514-515delCA‡ | 1 | — | — | — | — | |||
| +264C > C/T | 1 | — | — | — | — | |||
| +264C > T, 16327C > C/T | 1 | — | — | — | — | |||
| +7CT6C,* 8CT6C,* 514insCA† | 1 | — | — | — | — | |||
| +514insCA, 514-515delCA‡, 16287C > C/T | 1 | — | — | — | — | |||
| +16156G > G/A§ | 1 | — | — | — | — | |||
| T cells | ||||||||
| Aggregate sequence | 50 | — | — | — | — | |||
| Nonaggregate sequence | — | 43 | 46.2 | 25 | 26.9 | |||
| +514insCA† | 13 | — | — | — | — | |||
| +264C > T | 5 | — | — | — | — | |||
| +3T > T/C,§ 264C > C/T, 16518G > G/A§ | 1 | — | — | — | — | |||
| +146T > C, 514insCA† | 1 | — | — | — | — | |||
| +178A > A/G§ | 1 | — | — | — | — | |||
| +204T > C | 1 | — | — | — | — | |||
| +214A > G | 1 | — | — | — | — | |||
| +217T > T/C, 6CT6C,* 7CT6C* | 1 | — | — | — | — | |||
| +264C > C/T | 1 | — | — | — | — | |||
| +264C > T 401T > T/C,§ 425A > A/G§ | 1 | — | — | — | — | |||
| +6CT6C,* 7CT6C* | 1 | — | — | — | — | |||
| +7CT6C,* 8CT6C* | 1 | — | — | — | — | |||
| +514insCA, 514-515delCA‡ | 1 | — | — | — | — | |||
| +514-515delCA, 514insCA,‡ 16200A > A/G§ | 1 | — | — | — | — | |||
| +514insCA,† 16292C > T | 1 | — | — | — | — | |||
| +514insCA,† 16206A > A/G,§ 16452T > T/C§ | 1 | — | — | — | — | |||
| +514insCA,† 16569G > G/A§ | 1 | — | — | — | — | |||
| +526G > G/A§ | 1 | — | — | — | — | |||
| +16155A > A/G | 1 | — | — | — | — | |||
| +16174C > C/T | 1 | — | — | — | — | |||
| +16206A > A/G,§ 16328C > C/T | 1 | — | — | — | — | |||
| +16292C > C/T | 1 | — | — | — | — | |||
| +16296C† | 1 | — | — | — | — | |||
| +16299A > A/G | 1 | — | — | — | — | |||
| +16385A > A/G§ | 1 | — | — | — | — | |||
| +16428G > G/A§ | 1 | — | — | — | — | |||
| +16537C > C/T§ | 1 | — | — | — | — | |||
| B cells | ||||||||
| Aggregate sequence | 56 | — | — | — | — | |||
| Nonaggregate sequence | 37 | 39.8 | 14 | 15.1 | ||||
| +264C > T | 14 | — | — | — | — | |||
| +514insCA† | 9 | — | — | — | — | |||
| +6C > C/T,§ 514insCA† | 1 | — | — | — | — | |||
| +146T > C, 514insCA† | 1 | — | — | — | — | |||
| +152T > C, 170C > C/T§ | 1 | — | — | — | — | |||
| +169A > A/G§ | 1 | — | — | — | — | |||
| +214A > G | 1 | — | — | — | — | |||
| +237A > A/G, 264C > T | 1 | — | — | — | — | |||
| +264C > T/C | 1 | — | — | — | — | |||
| +264C > T, 7CT6C,* 8CT6C* | 1 | — | — | — | — | |||
| +264C > T, 16338A > A/G§ | 1 | — | — | — | — | |||
| +7CT6C* 8CT6C* | 1 | — | — | — | — | |||
| +6CT6C,* 7CT6C,* 16338A > A/G§ | 1 | — | — | — | — | |||
| +514insCA, 514-515delCA‡ | 1 | — | — | — | — | |||
| +514insCA,† 7CT6C,* 8CT6C* | 1 | — | — | — | — | |||
| +514insCA,† 16382C > C/T§ | 1 | — | — | — | — | |||
| Granulocytes | ||||||||
| Aggregate sequence | 36 | — | — | — | — | |||
| Nonaggregate sequence | — | 40 | 52.6 | 25 | 32.9 | |||
| +514insCA† | 11 | — | — | — | — | |||
| +264C > T | 5 | — | — | — | — | |||
| +146T > C | 1 | — | — | — | — | |||
| +146T > C, 514insCA† | 1 | — | — | — | — | |||
| +146T > T/C, 514insCA† | 1 | — | — | — | — | |||
| +146T > C, 514insCA†, 16292C > C/T | 1 | — | — | — | — | |||
| +174C > T,§ 514insCA† | 1 | — | — | — | — | |||
| +188A > A/G, 264C > C/T, 420C > C/T | 1 | — | — | — | — | |||
| +210A > T/A§ | 1 | — | — | — | — | |||
| +215A > G, 514insCA,† 16434G > G/A§ | 1 | — | — | — | — | |||
| +264C > T, 407T > T/C§ | 1 | — | — | — | — | |||
| +264C > T, 16415A > A/G§ | 1 | — | — | — | — | |||
| +294T > T/C, 514-515delCA, 514insCA‡ | 1 | — | — | — | — | |||
| +7CT6C,* 8CT6C* | 1 | — | — | — | — | |||
| +7CT6C,* 8CT6C,* 514insCA† | 1 | — | — | — | — | |||
| +8CT6C* | 1 | — | — | — | — | |||
| +368A > A/G,§ 523A > A/G§ | 1 | — | — | — | — | |||
| +382C > T§ | 1 | — | — | — | — | |||
| +514insCA, 514-515delCA‡, 16362T > T/C | 1 | — | — | — | — | |||
| +536C > T/C§ | 1 | — | — | — | — | |||
| +16096G > T,§ 16379C > C/T§ | 1 | — | — | — | — | |||
| +16166A > A/del§ | 1 | — | — | — | — | |||
| +16189T > T/del§ | 1 | — | — | — | — | |||
| +16196G > G/A, 16224T > T/C | 1 | — | — | — | — | |||
| +16199T > T/C,§ 16334T > T/C§ | 1 | — | — | — | — | |||
| +16314A > A/G | 1 | — | — | — | — | |||
| 5 (35/F) | ||||||||
| CD34+ cells | ||||||||
| Aggregate sequence | 59 | — | — | — | — | |||
| Nonaggregate sequence | — | 34 | 36.6 | 11 | 11.8 | |||
| +8CT6C,* 9CT6C* | 19 | — | — | — | — | |||
| +7CT6C,* 8CT6C* | 4 | — | — | — | — | |||
| +200A > A/G | 2 | — | — | — | — | |||
| +146T > C/T | 1 | — | — | — | — | |||
| +186C > C/T | 1 | — | — | — | — | |||
| +200A > G | 1 | — | — | — | — | |||
| +200A > A/G, 7CT6C,* 8CT6C,* 16362T > C/T | 1 | — | — | — | — | |||
| +200A > G, 16326A > A/G | 1 | — | — | — | — | |||
| +204T > C | 1 | — | — | — | — | |||
| +220T > T/C§ | 1 | — | — | — | — | |||
| +263A > G/A | 1 | — | — | — | — | |||
| +385A > G | 1 | — | — | — | — | |||
| T cells | ||||||||
| Aggregate sequence | 71 | — | — | — | — | |||
| Nonaggregate sequence | — | 25 | 26 | 15 | 15.6 | |||
| +8CT6C,* 9CT6C* | 10 | — | — | — | — | |||
| +7CT6C,* 8CT6C,* 9CT6C* | 2 | — | — | — | — | |||
| +14T > T/C§ | 1 | — | — | — | — | |||
| +134T > T/C,§ 7CT6C,* 8CT6C* | 1 | — | — | — | — | |||
| +200A > G | 1 | — | — | — | — | |||
| +228G > A/G | 1 | — | — | — | — | |||
| +7CT6C* | 1 | — | — | — | — | |||
| +7CT6C,* 8CT6C,* 16140T > T/C | 1 | — | — | — | — | |||
| +8CT6C,* 9CT6C,* 16092T > T/C | 1 | — | — | — | — | |||
| +8CT6C,* 9CT6C,* 16212A > A/G | 1 | — | — | — | — | |||
| +8CT6C,* 9CT6C,* 16360C > C/T | 1 | — | — | — | — | |||
| +316G > G/A, 16111C > C/A§ | 1 | — | — | — | — | |||
| +16225C > C/T§ | 1 | — | — | — | — | |||
| +16230A > A/G | 1 | — | — | — | — | |||
| +16463A > A/G | 1 | — | — | — | — | |||
| B cells | ||||||||
| Aggregate sequence | 61 | — | — | — | — | |||
| Nonaggregate sequence | — | 30 | 33 | 17 | 18.7 | |||
| +8CT6C,* 9CT6C* | 11 | — | — | — | — | |||
| +7CT6C,* 8CT6C* | 3 | — | — | — | — | |||
| +146T > T/C | 2 | — | — | — | — | |||
| +20T > T/C§ | 1 | — | — | — | — | |||
| +105C > C/T,§ 8CT6C,* 9CT6C* | 1 | — | — | — | — | |||
| +200A > A/G | 1 | — | — | — | — | |||
| +204T > C, 8CT6C,* 9CT6C,* 16278C > C/T | 1 | — | — | — | — | |||
| +8CT6C,* 9CT6C,* 16072C > C/G§ | 1 | — | — | — | — | |||
| +8CT6C,* 9CT6C,* 10CT6C* | 1 | — | — | — | — | |||
| +16151C > C/T§ | 1 | — | — | — | — | |||
| +16166A > A/del§ | 1 | — | — | — | — | |||
| +16213G > G/A | 1 | — | — | — | — | |||
| +16254A > A/del§ | 1 | — | — | — | — | |||
| +16275A > A/T§ | 1 | — | — | — | — | |||
| +16292C > T/C§ | 1 | — | — | — | — | |||
| +16310G > G/A | 1 | — | — | — | — | |||
| +16340A > A/G§ | 1 | — | — | — | — | |||
| Granulocytes | ||||||||
| Aggregate sequence | 49 | — | — | — | — | |||
| Nonaggregate sequence | — | 33 | 40.2 | 29 | 35.4 | |||
| +8CT6C,* 9CT6C* | 2 | — | — | — | — | |||
| +7CT6C,* 8CT6C* | 2 | — | — | — | — | |||
| +68G > G/A | 1 | — | — | — | — | |||
| +71G > G/del§ | 1 | — | — | — | — | |||
| +80C/T,§ 164C/T§ | 1 | — | — | — | — | |||
| +82A > A/G,§ 200A > G | 1 | — | — | — | — | |||
| +93A > A/G, 16185C > T | 1 | — | — | — | — | |||
| +122C > T§ | 1 | — | — | — | — | |||
| +139T > C/T§ | 1 | — | — | — | — | |||
| +172T > T/O§ | 1 | — | — | — | — | |||
| +199T > C, 16217T > T/C, 16439C > T§ | 1 | — | — | — | — | |||
| +200A > G | 1 | — | — | — | — | |||
| +200A > G/A | 1 | — | — | — | — | |||
| +200A > A/G | 1 | — | — | — | — | |||
| +200A > G, 223T > T/C | 1 | — | — | — | — | |||
| +229G > C§ | 1 | — | — | — | — | |||
| +266T > T/C | 1 | — | — | — | — | |||
| +304C > C/T§ | 1 | — | — | — | — | |||
| +310T > C/T | 1 | — | — | — | — | |||
| +378C > C/T,§ 16189T > T/C | 1 | — | — | — | — | |||
| +385A > A/del§ | 1 | — | — | — | — | |||
| +457C > C/T§, 517A > G§ | 1 | — | — | — | — | |||
| +16112C > C/T,§ 16420A > G/A§ | 1 | — | — | — | — | |||
| +16113A > G§ | 1 | — | — | — | — | |||
| +16123T > T/C§ | 1 | — | — | — | — | |||
| +16285A > A/G§ | 1 | — | — | — | — | |||
| +16305A > A/G | 1 | — | — | — | — | |||
| +16325T > T/C | 1 | — | — | — | — | |||
| +16350A > A/G | 1 | — | — | — | — | |||
| +16426C > T§ | 1 | — | — | — | — | |||
| +16527C > C/T§ | 1 | — | — | — | — | |||
Frequency indicates total mtDNA heterogeneity different from aggregate sequences; unique, uniquely different heterogeneity; +, mtDNA nucleotide changes compared with aggregate cell sequence; and —, not applicable.
Homopolymeric C tract at nucleotide positions at 303 to 315 (eg, 7CT6C defined CCCCCCCTCCCCCC) in HV2
Same as the Revised Cambridge Reference Sequence but different from the aggregate sequence
Mixed pattern of 514-515delCA and 514insCA
mtDNA mutations (not listed in accepted polymorphism database)