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

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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.

Journal

  • Stem Cell Research

    Stem Cell Research (39), 101485, 2019-06-18

    Elsevier B.V.

Codes

  • NII Article ID (NAID)
    120006707260
  • Text Lang
    ENG
  • Article Type
    journal article
  • ISSN
    1873-5061
  • Data Source
    IR 
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