Verification of an iPSC line (LZUi002-A) from a patient with a novel mutation in the TBL1X gene.
Journal
Stem cell research
ISSN: 1876-7753
Titre abrégé: Stem Cell Res
Pays: England
ID NLM: 101316957
Informations de publication
Date de publication:
05 2022
05 2022
Historique:
received:
25
01
2022
revised:
14
03
2022
accepted:
20
03
2022
pubmed:
28
3
2022
medline:
4
5
2022
entrez:
27
3
2022
Statut:
ppublish
Résumé
More than 120 genes have been reported to be associated with deafness, and deletion of the TBL1X gene may cause deafness in humans. In this study, we generated an induced pluripotent stem cell (iPSC) line from dermal fibroblasts of a 34-year-old deaf person with a novel variant c.342_343insGCGGCG in the TBL1X gene. The induced patient-specific iPSC line with a normal karyotype and expressed pluripotent markers, it also shows differentiation totipotency and tridermogenesis in vivo. It may be a good model for studying hearing loss in vitro and it will benefit to the development of new therapies for deafness.
Identifiants
pubmed: 35339883
pii: S1873-5061(22)00110-6
doi: 10.1016/j.scr.2022.102761
pii:
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
102761Informations de copyright
Copyright © 2022 Lanzhou University Second Hospital. Published by Elsevier B.V. All rights reserved.