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Article

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

Stem cell research - 1 May 2022

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

Abstract excerpt

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,...

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Identifiers

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

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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