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

• Yamamoto, Takuma

• Otsu, Makoto

• Okumura, Takashi

• Horie, Yumi

• Ueno, Yasuharu

• Taniguchi, Hideki

• Ohtaka, Manami

• Nakanishi, Mahito

• Abe, Yuki

• Murase, Takehiko

• Umehara, Takahiro

• Ikematsu, Kazuya

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.

Stem Cell Research, 39, art.no.101485; 2019

Journal

• Stem Cell Research

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

  Elsevier B.V.

Keywords

• Cell Biology
• Developmental Biology
• General Medicine

Details

• CRID: 1050850247193905280
• NII Article ID: 120006987680
• ISSN: 18735061
• DOI: 10.1016/j.scr.2019.101485
• HANDLE: 10069/39324
• Web Site: https://nagasaki-u.repo.nii.ac.jp/records/2028
• Web Site: https://api.elsevier.com/content/article/PII:S1873506119301151?httpAccept=text/xml
• Web Site: https://api.elsevier.com/content/article/PII:S1873506119301151?httpAccept=text/plain
• Text Lang: en
• Article Type: journal article
• Data Source:
  • IRDB
  • Crossref
  • CiNii Articles
  • KAKEN