Generation of gene-corrected isogenic controls from Parkinson's disease patient iPSC lines carrying the pathogenic SNCA p.A53T variant

Stem Cell Res. 2023 Jun:69:103125. doi: 10.1016/j.scr.2023.103125. Epub 2023 May 17.

Abstract

Pathogenic variants in the alpha-synuclein (SNCA) gene cause familial forms of Parkinson's disease (PD). Here, we describe generation of six isogenic controls from iPS cell lines derived from two PD disease patients carrying the SNCAp.A53T variant. The controls were created using CRISPR/Cas9 technology and are available for use by the PD research community to study A53T-related synucleinopathies.

MeSH terms

  • Gene Expression
  • Gene Expression Regulation
  • Humans
  • Induced Pluripotent Stem Cells* / metabolism
  • Parkinson Disease* / pathology
  • alpha-Synuclein / genetics
  • alpha-Synuclein / metabolism

Substances

  • alpha-Synuclein
  • SNCA protein, human