Generation of an induced pluripotent stem cell line (CSC-32) from a patient with Parkinson's disease carrying a heterozygous variation p.A53T in the SNCA gene

Stem Cell Res. 2020 Mar:43:101694. doi: 10.1016/j.scr.2019.101694. Epub 2020 Jan 11.

Abstract

Here, we describe the generation of an induced pluripotent stem cell (iPSC) line, from a male patient diagnosed with Parkinson's disease (PD). The patient carries a heterozygous variation p.A53T in the SNCA gene. Skin fibroblasts were reprogrammed using the non-integrating Sendai virus technology to deliver OCT3/4, SOX2, c-MYC and KLF4 factors. The generated iPSC line (CSC-32) preserved the mutation, displayed expression of common pluripotency markers, differentiated into derivatives of the three germ layers, and exhibited a normal karyotype. The clone CSC-32B is presented thereafter; it can be used to study the mechanisms underlying PD pathogenesis.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cell Differentiation
  • Cells, Cultured
  • Heterozygote
  • Humans
  • Induced Pluripotent Stem Cells / metabolism*
  • Kruppel-Like Factor 4
  • Male
  • Middle Aged
  • Parkinson Disease / genetics*
  • alpha-Synuclein / genetics*

Substances

  • KLF4 protein, human
  • Kruppel-Like Factor 4
  • SNCA protein, human
  • alpha-Synuclein