Table 1.

Samples included in this study

SampleDescriptionNotes
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  
SampleDescriptionNotes
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  
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