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

Yanli Wang; Zengping Liu; Chi Chen; Yong Li; Minxin Guan; Baicheng Xu; Yufen Guo

doi:10.1016/j.scr.2022.102761

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

Stem Cell Res. 2022 May:61:102761. doi: 10.1016/j.scr.2022.102761. Epub 2022 Mar 22.

Authors

Yanli Wang¹, Zengping Liu¹, Chi Chen¹, Yong Li¹, Minxin Guan², Baicheng Xu³, Yufen Guo⁴

Affiliations

¹ Department of Otolaryngology-Head and Neck Surgery, Lanzhou University Second Hospital, Lanzhou 730030, China.
² Institute of Genetics, Zhejiang University School of Medicine, Hangzhou 310012, Zhejiang, China.
³ Department of Otolaryngology-Head and Neck Surgery, Lanzhou University Second Hospital, Lanzhou 730030, China. Electronic address: xbsuc@126.com.
⁴ Department of Otolaryngology-Head and Neck Surgery, Lanzhou University Second Hospital, Lanzhou 730030, China; Health Commission of Gansu Province, Lanzhou 730000, China. Electronic address: guoyflz@163.com.

PMID: 35339883
DOI: 10.1016/j.scr.2022.102761

Abstract

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adult
Cell Differentiation
Cell Line
Deafness* / metabolism
Humans
Induced Pluripotent Stem Cells* / metabolism
Mutation / genetics