Generation of three induced pluripotent stem cell lines from postmortem tissue derived following sudden death of a young patient with STXBP1 mutation

Stem Cell Res. 2019 Aug;39:101485. doi: 10.1016/j.scr.2019.101485. Epub 2019 Jun 18.

Abstract

We established three iPSC lines from postmortem-cultured fibroblasts derived following the sudden unexpected death of an 8-year-old girl with Lennox-Gastaut syndrome, who turned out to have the R551H-mutant STXBP1 gene. These iPSC clones showed pluripotent characteristics while retaining the genotype and demonstrated trilineage differentiation capability, indicating their utility in disease-modeling studies, i.e., STXBP1-encephalopathy. This is the first report on the establishment of iPSCs from a sudden death child, suggesting the possible use of postmortem-iPSC technologies as an epoch-making approach for precise identification of the cause of sudden death.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Cell Differentiation / genetics
  • Cell Differentiation / physiology
  • Cell Line
  • Cells, Cultured
  • Female
  • Fibroblast Growth Factor 2 / genetics
  • Fibroblast Growth Factor 2 / metabolism
  • Humans
  • Induced Pluripotent Stem Cells / cytology*
  • Induced Pluripotent Stem Cells / metabolism*
  • Karyotype
  • Leukocytes, Mononuclear / metabolism
  • Microsatellite Repeats / genetics
  • Munc18 Proteins / genetics*
  • Mutation / genetics

Substances

  • Munc18 Proteins
  • STXBP1 protein, human
  • Fibroblast Growth Factor 2