Skip to main content

Table 1 Summary of human cell lines used in the study

From: Neural stem cells for disease modeling and evaluation of therapeutics for infantile (CLN1/PPT1) and late infantile (CLN2/TPP1) neuronal ceroid lipofuscinoses

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