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


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. Copyright © 2019. Published by Elsevier B.V.

Authors Yamamoto T, Otsu M, Okumura T, Horie Y, Ueno Y, Taniguchi H, Ohtaka M, Nakanishi M, Abe Y, Murase T, Umehara T, Ikematsu K
Journal Stem cell research
Publication Date 2019 Aug;39:101485
PubMed 31255830
DOI 10.1016/j.scr.2019.101485

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