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