Generation of the Niemann-Pick type C2 patient-derived iPSC line AKOSi001-A
Summary
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 |
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| Journal | Stem cell research |
| Publication Date | 2019 Dec;41:101606 |
| PubMed | 31669975 |
| DOI | 10.1016/j.scr.2019.101606 |