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Article

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

Stem cell research - 1 Dec 2019

Völkner Christin, Peter Franziska, Liedtke Maik, Krohn Saskia, Lindner Iris, Murua Escobar Hugo, Cimmaruta Chiara, Lukas Jan, Hermann Andreas, Frech Moritz J

Abstract excerpt

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...

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Identifiers

PMID: 31669975
DOI: 10.1016/j.scr.2019.101606

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