Journal Article

DZNE-2022-00956

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png 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.

Völkner, C. ; Liedtke, M. ; Petters, J. ; Huth, K. ; Knuebel, G. ; Murua Escobar, H. ; Bullerdiek, J. ; Lukas, J. ; Hermann, A.DZNE* ; Frech, M. J.

2020
Elsevier Amsterdam [u.a.]

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Please use a persistent id in citations: doi:10.1016/j.scr.2020.102056

Abstract: 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.

Keyword(s): Fibroblasts (MeSH) ; Humans (MeSH) ; Induced Pluripotent Stem Cells (MeSH) ; Intracellular Signaling Peptides and Proteins (MeSH) ; Kruppel-Like Factor 4 (MeSH) ; Male (MeSH) ; Mutation: genetics (MeSH) ; Niemann-Pick C1 Protein (MeSH) ; Niemann-Pick Disease, Type C (MeSH) ; Sendai virus: genetics (MeSH) ; Intracellular Signaling Peptides and Proteins ; KLF4 protein, human ; Kruppel-Like Factor 4 ; NPC1 protein, human ; Niemann-Pick C1 Protein

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Contributing Institute(s):

1. Clinical Dementia Research Rostock /Greifswald (AG Teipel)

Research Program(s):

1. 899 - ohne Topic (POF4-899) (POF4-899)

Appears in the scientific report 2020

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