Table 1 Summary of human cell lines used in the study
Subject | Fibroblasts | iPSC lines | Sex | Genotype/Phenotype | Genotype designation |
|---|---|---|---|---|---|
WT | GM05659 | HT268A | Male | Wild Type | WT |
NPC1 | GM03123 | HT237A | Female | NPC1 c.709C > T (p.Pro237Ser) and c.3182 T > C (p.Ile1061Thr) | NPC1 |
CLN1 | GM20389 | HT146B, F | Male | PPT1 c.739 T > C (p.Tyr247His) and c.3G > A (p.Met1Ile) | PPT1 E8/E1 |
CLN2 | GM16485 | HT140A, E | Female | TPP1 c.379C > T (p.Arg127Ter) and c.622C > T, (p.Arg208Ter) | TPP1 E4/E6 |
CLN2 | GM16486 | HT264A, B | Male | TPP1 c.380G > A (p.Arg127Gln) and IVS5-1G > C | TPP1 E4/IVS5 |