Verification of an iPSC line (LZUi002-A) from a patient with a novel mutation in the TBL1X gene

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...

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Bibliographic Details
Published in:Stem cell research 2022-05, Vol.61, p.102761-102761, Article 102761
Main Authors: Wang, Yanli, Liu, Zengping, Chen, Chi, Li, Yong, Guan, Minxin, Xu, Baicheng, Guo, Yufen
Format: Article
Language:English
Subjects:
Adult
Cell Differentiation
Cell Line
Deafness - metabolism
Humans
Induced Pluripotent Stem Cells - metabolism
Mutation - genetics
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Summary: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.
ISSN:1873-5061
1876-7753
DOI:10.1016/j.scr.2022.102761