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
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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.
Impact of Organelle Transport Deficits on Mitophagy and Autophagy in Niemann-Pick Disease Type C.
Liedtke M, Volkner C, Hermann A, Frech M Cells. 2022; 11(3).
PMID: 35159316 PMC: 8833886. DOI: 10.3390/cells11030507.
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Pluripotent Stem Cells for Disease Modeling and Drug Discovery in Niemann-Pick Type C1.
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PMID: 33445799 PMC: 7828283. DOI: 10.3390/ijms22020710.