Generation of an iPSC line (AKOSi006-A) from fibroblasts of an NPC1 patient, carrying the homozygous mutation p.I1061T (c.3182 T > C) and a control iPSC line (AKOSi007-A) using a non-integrating Sendai virus system


Niemann-Pick disease type C1 (NPC1) is a rare inherited lipid storage disorder caused by mutations in the NPC1 gene. Mutations lead to impaired lipid trafficking and subsequently to accumulation of cholesterol and sphingolipids. NPC1-patients present variable multisystemic symptoms, including neurological deficits. Here, we describe the generation of human iPSC lines obtained from fibroblasts of a male individual, carrying the homozygous mutation p.I1061T, and an unrelated and healthy male individual. A non-integrating Sendai virus system, containing KLF4, OCT3/4, SOX2 and C-MYC, was used for reprogramming. These cell lines provide a valuable resource for studying the pathophysiology of multisystemic NPC1-disease. Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Völkner C, Liedtke M, Petters J, Huth K, Knuebel G, Murua Escobar H, Bullerdiek J, Lukas J, Hermann A, Frech MJ
Journal Stem cell research
Publication Date 2020 Dec;49:102056
PubMed 33099109
DOI 10.1016/j.scr.2020.102056

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