Mowat-Wilson syndrome: Generation of two human iPS cell lines (UUIGPi004A and UUIGPi005A) from siblings with a truncating ZEB2 gene variant.
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:
28
06
2019
revised:
19
07
2019
accepted:
25
07
2019
pubmed:
4
8
2019
medline:
28
4
2020
entrez:
4
8
2019
Statut:
ppublish
Résumé
Mowat-Wilson syndrome (MWS) is a complex developmental syndrome caused by heterozygous mutations in the Zinc finger E-box-binding homeobox 2 gene (ZEB2). We generated the first human iPSC lines from primary fibroblasts of two siblings with MWS carrying a heterozygous ZEB2 stop mutation (c.1027C > T; p.Arg343*) using the Sendai virus reprogramming system. Both iPSC lines were free from reprogramming vector genes, expressed pluripotency markers and showed potential to differentiate into the three germ layers. Genetic analysis confirmed normal karyotypes and a preserved stop mutation. These iPSC lines will provide a useful resource to study altered neural lineage fate and neuropathophysiology in MWS.
Identifiants
pubmed: 31376723
pii: S1873-5061(19)30148-5
doi: 10.1016/j.scr.2019.101518
pii:
doi:
Substances chimiques
ZEB2 protein, human
0
Zinc Finger E-box Binding Homeobox 2
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
101518Informations de copyright
Copyright © 2019 The Authors. Published by Elsevier B.V. All rights reserved.