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


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, Murua Escobar H, Knuebel G, Bullerdiek J, Holzmann C, Hermann A, Frech MJ, US Food and Drug Administration Interviewees, Robyn Bent R, Bocell F, Garrard L, Johnson LL, Knoble N, Reasner D, Tarver M, Weinfurt K, Mullin T
Journal Stem cell research
Publication Date 2020 Dec 15;50:102127
PubMed 33360098
DOI 10.1016/j.scr.2020.102127

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