Generation of an iPSC line (AKOSi004-A) from fibroblasts of a female adult NPC1 patient, carrying the compound heterozygous mutation p.Val1023Serfs*15/p.Gly992Arg and of an iPSC line (AKOSi005-A) from a female adult control individual
Summary
Niemann-Pick disease Type C (NPC) is a rare progressive neurodegenerative disorder with an incidence of 1:120,000 caused by mutations in the NPC1 or NPC2 gene leading to a massive cholesterol accumulation. Here, we describe the generation of induced pluripotent stem cells (iPSCs) of an affected female adult individual carrying the NPC1 mutation p.Val1023Serfs*15/p.Gly992Arg and an iPSC line from an unrelated healthy female adult control individual. Human iPSCs were derived from fibroblasts using retroviruses carrying the four reprogramming factors OCT4, SOX2, KLF4 and C-MYC. These lines provide a valuable resource for studying the pathophysiology of NPC and for pharmacological intervention. Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Völkner C, Liedtke M, Petters J, Lukas J, Escobar HM, Knuebel G, Bullerdiek J, Holzmann C, Hermann A, Frech MJ |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2020 Dec 15;50:102127 |
| PubMed | 33360098 |
| DOI | 10.1016/j.scr.2020.102127 |