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.

Abstract

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.

• Authors: Rong Li, Manisha Pradhan, Miao Xu, Amanda Roeder, Jeanette Beers, Jizhong Zou, Chengyu Liu, Forbes D Porter, Wei Zheng
• Journal: Stem cell research (Stem Cell Res) Vol. 44 Pg. 101737 (04 2020) ISSN: 1876-7753 [Electronic] England
• PMID: 32114296 (Publication Type: Journal Article, Research Support, N.I.H., Intramural)
• Copyright: Published by Elsevier B.V.

Chemical References

• Intracellular Signaling Peptides and Proteins
• NPC1 protein, human
• Niemann-Pick C1 Protein
• Cholesterol

Topics

• Cell Line
• Cholesterol
• Humans
• Induced Pluripotent Stem Cells
• Intracellular Signaling Peptides and Proteins
• Male
• Mutation (genetics)
• Niemann-Pick C1 Protein
• Niemann-Pick Disease, Type A
• Niemann-Pick Diseases