Generation of an integration-free induced pluripotent stem cell line (PUMCHi001-A) from a patient with familial partial lipodystrophy type 2 (FPLD2) carrying a heterozygous p.R349W (c.1045C > T) mutation in the LMNA gene

Stem Cell Res. 2020 Jan:42:101651. doi: 10.1016/j.scr.2019.101651. Epub 2019 Nov 6.

Abstract

Familial partial lipodystrophy type 2 (FPLD2) is a rare autosomal dominant metabolic disorder caused by heterozygous mutations in the LMNA gene, which encodes for the lamin A/C. A human induced pluripotent stem cell (iPSC) line was generated from peripheral blood mononuclear cells (PBMCs) of a 30 year-old male patient with FPLD2 who had a heterozygous p.R349W (c.1045C > T) mutation in the LMNA gene using non-integrating episomal vector technique. This iPSC line offers a useful resource to investigate pathogenic mechanisms in FPLD2, as well as a cell-based model for drug development to treat FPLD2.

Publication types

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

MeSH terms

  • Adult
  • Humans
  • Induced Pluripotent Stem Cells / metabolism*
  • Lamin Type A / genetics*
  • Lipodystrophy, Familial Partial / genetics*
  • Lipodystrophy, Familial Partial / pathology
  • Male
  • Mutation

Substances

  • LMNA protein, human
  • Lamin Type A