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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ID: 34177
2019
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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.
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yamamoto2019generationstem Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors Yamamoto, Takuma;Otsu, Makoto;Okumura, Takashi;Horie, Yumi;Ueno, Yasuharu;Taniguchi, Hideki;Ohtaka, Manami;Nakanishi, Mahito;Abe, Yuki;Murase, Takehiko;Umehara, Takahiro;Ikematsu, Kazuya;
Journal Stem cell research
Year 2019
DOI
S1873-5061(19)30115-1
URL
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