Table 3.
# | Coriell # | GAA repeat # | Gender | Onset age/Age |
---|---|---|---|---|
Controls | ||||
1 | GM07521 | n.a. | F | −/19 |
2 | GM14907 | n.a. | M | −/28 |
3 | GM14406 | n.a. | F | −/41 |
4 | GM05398 | n.a. | M | −/44 |
5 | GM03798 | n.a. | M | −/10 |
FA Carriers | ||||
6 | GM15847a | 760 | F | −/45 |
7 | GM15848b | 830 | M | −/46 |
8 | GM16219 | 570 | F | −/43 |
9 | GM15849c | 920 | M | −/10 |
FA Patients | ||||
10 | GM16216 | 200/500 | F | n.a./45 |
11 | GM16210 | 580/580 | M | 17/39 |
12 | GM16223 | 400/630 | M | 19/41 |
13 | GM15850 | 650/1030 | M | n.a./13 |
14 | GM16244 | 550/920 | F | 9/18 |
15 | GM16243 | 670/1170 | M | 14/23 |
16 | GM14518 | 925/1122 | F | n.a |
Lymphoblast cell lines derived from clinically unaffected controls, clinically unaffected FA carriers and clinically - affected FA patients were obtained from the Coriell Institute for Medical Research. Coriell provided the numbers of expanded GAA repeats. Within each group, samples are in order from highest to lowest based on the dipstick signal strength. Precise values for GAA repeats were not available (n.a.) for controls or for the normal allele of FA carriers, but these alleles were described as lacking expanded GAA repeats. Gender is expressed as male (M) or female (F). Age of onset is reported if the information was provided by Coriell. Age corresponds to the age when the cellular material was isolated for cell culture.
Mother, father and brother of affected child, GM15850.