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

Stem Cell Res. 2019 Dec:41:101606. doi: 10.1016/j.scr.2019.101606. Epub 2019 Oct 15.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cell Differentiation*
  • Cells, Cultured
  • Fibroblasts / metabolism
  • Fibroblasts / pathology*
  • Humans
  • Induced Pluripotent Stem Cells / metabolism
  • Induced Pluripotent Stem Cells / pathology*
  • Male
  • Mutation*
  • Niemann-Pick Disease, Type C / genetics*
  • Niemann-Pick Disease, Type C / pathology*
  • Vesicular Transport Proteins / genetics*

Substances

  • NPC2 protein, human
  • Vesicular Transport Proteins

Supplementary concepts

  • Niemann-Pick disease, type C2