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

  1. aAge relates to subject age at skin biopsy.
  2. bClinical features of classic LND include motor dysfunction resembling cerebral palsy, cognitive impairment, self-injurious behavior, and overproduction of uric acid.