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Paper Details

An induced pluripotent stem cell line (TRNDi001-D) from a Niemann-Pick disease type C1 (NPC1) patient carrying a homozygous p. I1061T (c. 3182T>C) mutation in the NPC1 gene.
Stem Cell Res
4
2020
Deficiency of either NPC1 or NPC2 protein, I1061T, NPC, NPC1, NPC1 gene, NPC1 iPSC line, NPC2, NPC2 protein, Niemann-Pick disease type C1, Niemann-Pick disease, type C, TRNDi001, autosomal recessive genetic disease, c. 3182T>C, cholesterol, cholesterol-binding protein, cholesterols, dermal fibroblasts, human, human induced pluripotent stem cell (iPSC) line, induced pluripotent stem cell line, lysosomal, lysosome, p. I1061T, p.I1061T, patient
Author NameAffiliation
Jeanette BeersLung and Blood Institute, National Institutes of Health
Jeanette BeersLung and Blood Institute, National Institutes of Health
Jizhong ZouLung and Blood Institute, National Institutes of Health
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