Generation of iPSC line (USTCi001-A) from human skin fibroblasts of a patient with epilepsy.
Journal
Stem cell research
ISSN: 1876-7753
Titre abrégé: Stem Cell Res
Pays: England
ID NLM: 101316957
Informations de publication
Date de publication:
05 2020
05 2020
Historique:
received:
20
01
2020
revised:
17
03
2020
accepted:
23
03
2020
pubmed:
27
4
2020
medline:
22
6
2021
entrez:
27
4
2020
Statut:
ppublish
Résumé
Epilepsy is a neurological disorder, characterized by recurrent (two or more) epileptic seizures resulting from excessive and abnormal cortical neural activity.Fibroblasts were collected from a 10-year-old male with antecedent febrile seizures (PEFS+) and carrying a heterozygous A > G mutation of Nav1.1 α subunit gene. The induced USTCi001-A retained the mutation, expressed pluripotent markers, showed normal karyotype, and displayed in vitro differentiation potential toward cells of the three embryonic germ layers.
Identifiants
pubmed: 32335389
pii: S1873-5061(20)30088-X
doi: 10.1016/j.scr.2020.101785
pii:
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
101785Informations de copyright
Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.
Déclaration de conflit d'intérêts
Declaration of Competing Interest The authors declare no conflict of interest.