Generation of three human iPSC lines from PLAN (PLA2G6-associated neurodegeneration) patients

Stem Cell Res. 2021 May:53:102338. doi: 10.1016/j.scr.2021.102338. Epub 2021 Apr 15.

Abstract

The human iPSC cell lines, PLANFiPS1-Sv4F-1 (RCPFi004-A), PLANFiPS2-Sv4F-1 (RCPFi005-A), PLANFiPS3-Sv4F-1 RCPFi006-A), derived from dermal fibroblast from three patients suffering PLAN (PLA2G6-associated neurodegeneration; MIM 256600) caused by mutations in the PLA2G6 gene, was generated by non-integrative reprogramming technology using OCT3/4, SOX2, CMYC and KLF4 reprogramming factors. The pluripotency was assessed by immunocytochemistry and RT-PCR. Differentiation capacity was verified in vitro. This iPSC line can be further differentiated toward affected cells to better understand molecular mechanisms of disease and pathophysiology.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cell Differentiation
  • Cell Line
  • Cellular Reprogramming
  • Group VI Phospholipases A2
  • Humans
  • Induced Pluripotent Stem Cells*
  • Kruppel-Like Factor 4
  • Mutation
  • Neuroaxonal Dystrophies*

Substances

  • KLF4 protein, human
  • Kruppel-Like Factor 4
  • Group VI Phospholipases A2
  • PLA2G6 protein, human