Table 1 Subject characteristics.
From: Induced pluripotent stem cells from subjects with Lesch-Nyhan disease
LND Cases | Healthy controls | |||||
---|---|---|---|---|---|---|
A | D | T | A | B | C | |
Sex | Male | Male | Male | Male | Male | Male |
Agea | 15 | 10 | 46 | 21 | 43 | 22 |
Race | Black | Caucasian | Caucasian | Caucasian | Black | Caucasian |
HPRT1 gene variant | c.151C > T | c.508C > T | c.371insTT | none | none | none |
HGprt consequence | Premature stop | Premature stop | Frame shift, premature stop | Normal | Normal | Normal |
Clinical featuresb | Classic | Classic | Classic | Normal | Normal | Normal |
iPSC lines | L3.29 L3.30 | L2.09 L2.12 | L1.02 L1.04 | C1.02 C1.03 | C2.04 C2.06 | C3.05 C3.08 |