Generation of an iPSC line (SKLOi001-A) from a patient with CLCN2-related leukoencephalopathy

Stem Cell Res. 2020 May:45:101769. doi: 10.1016/j.scr.2020.101769. Epub 2020 Mar 17.

Abstract

CLCN2-related leukoencephalopathy (CC2L) is a rare disease due to autosomal recessive loss-of-function mutations in CLCN2 gene. We generated an induced pluripotent stem cell (iPSC) line (SKLOi001-A) from urine cells isolated from a CC2L patient carrying a homozygotic mutation: c.2257C>T (p.Arg753*) in CLCN2 gene via an integration-free methods. The established iPSC line kept the CLCN2 mutation and displayed a normal karyotype, expressed pluripotency markers, showed differentiation potential. This newly iPSC line could be served as a possible tool to unravel the mechanisms underlying CLCN2-associated diseases and screen drugs for the treatment.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cell Differentiation
  • Homozygote
  • Humans
  • Induced Pluripotent Stem Cells*
  • Leukoencephalopathies*
  • Mutation