Generation of the Niemann-Pick type C2 patient-derived iPSC line AKOSi001-A


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. Only 5% of NPC patients suffer from mutations of the NPC2 gene. Here we demonstrate the generation of a Niemann-Pick disease Type C2 (NPC2) patient-derived induced pluripotent stem cell line. This cell line is capable to differentiate into derivatives of the neuronal lineage, providing a valuable tool to study pathogenic mechanisms of NPC2. Copyright © 2019 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Völkner C, Peter F, Liedtke M, Krohn S, Lindner I, Murua Escobar H, Cimmaruta C, Lukas J, Hermann A, Frech MJ
Journal Stem cell research
Publication Date 2019 Dec;41:101606
PubMed 31669975
DOI 10.1016/j.scr.2019.101606

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