Samples included in this study
Sample . | Description . | Notes . |
---|---|---|
N1 | 20-y-old female | Healthy individual |
N2 | 21-y-old male | Healthy individual |
N3 | 51-y-old female | Healthy individual |
N4 | 31-y-old female | Healthy individual |
N5 | 62-y-old male | Healthy individual |
N6 | 46-y-old female | Healthy individual |
N7 | 39-y-old male | Healthy individual |
D1 | 24-y-old female, | DBA, RPS19 L18P mutation, steroid nonresponsive, and transfusion dependent. Patient #DBA13 |
D1.2 | second sample at 27 y old | |
D2 | 47-y-old female | DBA, no identified mutation, steroid responsive but not tolerated, and transfusion dependent. Index patient29 |
M1 | 73-y-old male | MDS-5q, 5q13-q33 deletion; 74.5% of cells have the 5q– via iFISH. No cytogenetic abnormality besides del(5q) |
M2 | 61-y-old female | MDS-5q, 5q13-q33 deletion; 65% of cells have the 5q– via iFISH. No cytogenetic abnormality besides del(5q). Patient #MDS13 |
Sample . | Description . | Notes . |
---|---|---|
N1 | 20-y-old female | Healthy individual |
N2 | 21-y-old male | Healthy individual |
N3 | 51-y-old female | Healthy individual |
N4 | 31-y-old female | Healthy individual |
N5 | 62-y-old male | Healthy individual |
N6 | 46-y-old female | Healthy individual |
N7 | 39-y-old male | Healthy individual |
D1 | 24-y-old female, | DBA, RPS19 L18P mutation, steroid nonresponsive, and transfusion dependent. Patient #DBA13 |
D1.2 | second sample at 27 y old | |
D2 | 47-y-old female | DBA, no identified mutation, steroid responsive but not tolerated, and transfusion dependent. Index patient29 |
M1 | 73-y-old male | MDS-5q, 5q13-q33 deletion; 74.5% of cells have the 5q– via iFISH. No cytogenetic abnormality besides del(5q) |
M2 | 61-y-old female | MDS-5q, 5q13-q33 deletion; 65% of cells have the 5q– via iFISH. No cytogenetic abnormality besides del(5q). Patient #MDS13 |