Reprogramming of a human induced pluripotent stem cell (iPSC) line (IBMSi012-A) from an early-onset Parkinson's disease patient harboring a homozygous p.D331Y mutation in the PLA2G6 gene

Stem Cell Res. 2019 May:37:101432. doi: 10.1016/j.scr.2019.101432. Epub 2019 Apr 5.

Abstract

A recessive mutation in PLA2G6, which is known to cause a heterogeneous neurodegenerative clinical spectrum, has recently been shown to be responsible for autosomal-recessive familial forms of Parkinson's disease (PD). Here, we generated induced pluripotent stem cells (iPSCs) from the peripheral blood mononuclear cells of a female patient with a homozygous PLA2G6 c.991G > T (p.D331Y) mutation by using the Sendai-virus delivery system. The resulting iPSCs showed pluripotency confirmed by immunofluorescent staining for pluripotency markers and differentiated into the 3 germ layers in vivo. This cellular model will provide a good resource for further pathophysiological studies of PD.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Age of Onset
  • Animals
  • Cell Differentiation*
  • Cells, Cultured
  • Cellular Reprogramming*
  • Female
  • Group VI Phospholipases A2 / genetics*
  • Homozygote
  • Humans
  • Induced Pluripotent Stem Cells / metabolism
  • Induced Pluripotent Stem Cells / pathology*
  • Leukocytes, Mononuclear / metabolism
  • Mice
  • Mice, Inbred NOD
  • Mice, SCID
  • Mutation*
  • Parkinson Disease / genetics*
  • Parkinson Disease / pathology
  • Phenotype
  • Teratoma / etiology*
  • Teratoma / pathology

Substances

  • Group VI Phospholipases A2
  • PLA2G6 protein, human