Induced pluripotent stem cell line (LCSBi001-A) derived from a patient with Parkinson's disease carrying the p.D620N mutation in VPS35

Stem Cell Res. 2020 May:45:101776. doi: 10.1016/j.scr.2020.101776. Epub 2020 Apr 4.

Abstract

Fibroblasts were obtained from a 76 year-old man diagnosed with Parkinson's disease (PD). The disease is caused by a heterozygous p.D620N mutation in VPS35. Induced pluripotent stem cells (iPSCs) were generated using the CytoTune™-iPS 2.0 Sendai Reprogramming Kit (Thermo Fisher Scientific). The presence of the c.1858G > A base exchange in exon 15 of VPS35 was confirmed by Sanger sequencing. The iPSCs are free of genomically integrated reprogramming genes, express pluripotency markers, display in vitro differentiation potential to the three germ layers and have karyotypic integrity. Our iPSC line will be useful for studying the impact of the p.D620N mutation in VPS35 in vitro.

Publication types

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

MeSH terms

  • Aged
  • Cell Differentiation
  • Heterozygote
  • Humans
  • Induced Pluripotent Stem Cells*
  • Male
  • Mutation
  • Parkinson Disease* / genetics
  • Vesicular Transport Proteins / genetics

Substances

  • VPS35 protein, human
  • Vesicular Transport Proteins