An induced pluripotent stem cell line (TRNDi001-D) from a Niemann-Pick disease type C1 (NPC1) patient carrying a homozygous p. I1061T (c. 3182 T>C) mutation in the NPC1 gene

Publication date: Available online 19 February 2020Source: Stem Cell ResearchAuthor(s): Rong Li, Manisha Pradhan, Miao Xu, Amanda Baskfield, Jeanette Beers, Jizhong Zou, Chengyu Liu, Forbes D. Porter, Wei ZhengAbstractNiemann-Pick disease, type C (NPC) is a rare autosomal recessive genetic disease caused by mutations in either NPC1 or NPC2, which encodes an intracellular cholesterol-binding protein in lysosome. Deficiency of either NPC1 or NPC2 protein results in malfunction of intracellular cholesterol trafficking and lysosomal accumulation of unesterified cholesterols. A human induced pluripotent stem cell (iPSC) line was generated from dermal fibroblasts of a male patient that has a homozygous p.I1061T missense mutation in NPC1 using a non-integrating Sendai virus technique. This NPC1 iPSC line offers a useful resource for disease modeling and drug development.
Source: Stem Cell Research - Category: Stem Cells Source Type: research