Generation of three induced pluripotent stem cell lines from postmortem tissue derived following sudden death of a young patient with STXBP1 mutation.
Journal
Stem cell research
ISSN: 1876-7753
Titre abrégé: Stem Cell Res
Pays: England
ID NLM: 101316957
Informations de publication
Date de publication:
08 2019
08 2019
Historique:
received:
10
05
2019
revised:
10
06
2019
accepted:
13
06
2019
pubmed:
1
7
2019
medline:
28
4
2020
entrez:
1
7
2019
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 31255830
pii: S1873-5061(19)30115-1
doi: 10.1016/j.scr.2019.101485
pii:
doi:
Substances chimiques
Munc18 Proteins
0
STXBP1 protein, human
0
Fibroblast Growth Factor 2
103107-01-3
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
101485Informations de copyright
Copyright © 2019. Published by Elsevier B.V.