Stem Cell Research (Apr 2022)

Establishment and characterization of human induced pluripotent stem cell line from a Parkinson’s disease patient harboring VPS13A gene mutation

  • Xianjie Lu,
  • Wei Wang,
  • Yanming Liu,
  • Na Song,
  • Mengpeng Li,
  • Xin Mu,
  • Nan Zhang,
  • Qingfa Chen,
  • Licheng Jiang,
  • Xianglin Kong,
  • Peng Sun,
  • Jiabei Tong,
  • Yunping Zhang,
  • Jingtao Li,
  • Shengjun Ma,
  • Fabin Han

Journal volume & issue
Vol. 60
p. 102685

Abstract

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Mutations in VPS13 gene have been recently reported as a genetic cause of Parkinson's disease (PD). In this study, we isolated the skin fibroblasts from a PD patient harboring VPS13A gene mutation (c. 4282_4289delinsA) and reprogrammed the fibroblasts to a novel patient-specific induced pluripotent stem cell (iPSC) line LCPHi002-A using transgene-free episomal plasmids to express OCT3/4, SOX2, KLF4, L-MYC, and LIN28. The LCPHi002-A line showed the normal karyotype, expression of pluripotency markers, and had multi-lineage differentiation capacity in vivo. This iPSC line of LCPHi002-A could be used for studying pathogenic mechanisms of PD.