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
Summary
Niemann-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. Published by Elsevier B.V.
| Authors | Li R, Pradhan M, Xu M, Roeder A, Beers J, Zou J, Liu C, Porter FD, Zheng W |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2020 Apr;44:101737 |
| PubMed | 32114296 |
| PubMed Central | PMC7218921 |
| DOI | 10.1016/j.scr.2020.101737 |