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

Stem Cell Research (May 2022)

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

Affiliations

Yanli Wang: Department of Otolaryngology-Head and Neck Surgery, Lanzhou University Second Hospital, Lanzhou 730030, China
Zengping Liu: Department of Otolaryngology-Head and Neck Surgery, Lanzhou University Second Hospital, Lanzhou 730030, China
Chi Chen: Department of Otolaryngology-Head and Neck Surgery, Lanzhou University Second Hospital, Lanzhou 730030, China
Yong Li: Department of Otolaryngology-Head and Neck Surgery, Lanzhou University Second Hospital, Lanzhou 730030, China
Minxin Guan: Institute of Genetics, Zhejiang University School of Medicine, Hangzhou 310012, Zhejiang, China
Baicheng Xu: Department of Otolaryngology-Head and Neck Surgery, Lanzhou University Second Hospital, Lanzhou 730030, China; Corresponding authors at: Department of Otolaryngology-Head and Neck Surgery, Lanzhou University Second Hospital, Lanzhou 730030, China (Y. Guo).
Yufen Guo: Department of Otolaryngology-Head and Neck Surgery, Lanzhou University Second Hospital, Lanzhou 730030, China; Health Commission of Gansu Province, Lanzhou 730000, China; Corresponding authors at: Department of Otolaryngology-Head and Neck Surgery, Lanzhou University Second Hospital, Lanzhou 730030, China (Y. Guo).

Journal volume & issue: Vol. 61
p. 102761

Abstract

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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.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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