Generation of induced pluripotent stem cells from a patient with hearing loss carrying GJB2 p.V37I mutation

Yen-Hui Chan; Yen-Fu Cheng; You-Tzung Chen; Cheng-Yen Huang; Chin-Hsien Lin; Chin-Ju Hu; Ying-Chang Lu; Chen-Chi Wu; Chuan-Jen Hsu

doi:10.1016/j.scr.2018.10.002

Generation of induced pluripotent stem cells from a patient with hearing loss carrying GJB2 p.V37I mutation

Stem Cell Res. 2018 Dec:33:51-55. doi: 10.1016/j.scr.2018.10.002. Epub 2018 Oct 3.

Authors

Yen-Hui Chan¹, Yen-Fu Cheng², You-Tzung Chen³, Cheng-Yen Huang⁴, Chin-Hsien Lin⁵, Chin-Ju Hu⁶, Ying-Chang Lu⁶, Chen-Chi Wu⁷, Chuan-Jen Hsu⁸

Affiliations

¹ Department of Otolaryngology, Taichung Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, Taichung, Taiwan; Deparement of Otolaryngology, National Taiwan University Hospital, Taipei, Taiwan.
² Department of Medical Research, Taipei Veterans General Hospital, Taipei, Taiwan; Department of Otolaryngology-Head and Neck Surgery, Taipei Veterans General Hospital, Taipei, Taiwan.
³ Graduate Institute of Medical Genomics and Proteomics, College of Medicine, National Taiwan University, Taipei, Taiwan.
⁴ Gene Knockout/In Cell Line Modeling Core, Human Disease Modeling Center, First Core Laboratory, Branch Office of Research and Development, College of Medicine, National Taiwan University, Taiwan.
⁵ Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan.
⁶ Deparement of Otolaryngology, National Taiwan University Hospital, Taipei, Taiwan.
⁷ Deparement of Otolaryngology, National Taiwan University Hospital, Taipei, Taiwan. Electronic address: chenchiwu@ntuh.gov.tw.
⁸ Department of Otolaryngology, Taichung Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, Taichung, Taiwan. Electronic address: cjhsu@ntu.edu.tw.

PMID: 30316039
DOI: 10.1016/j.scr.2018.10.002

Abstract

Recessive mutations in the GJB2 gene are the most common genetic cause of hearing loss in humans. By using the Sendai-virus delivery system, we generated induced pluripotent stem cells (iPSCs) from the peripheral blood mononuclear cells of a female patient with the p.V37I (c.109G > A) mutation, a GJB2 mutation highly prevalent in the Asian population. The resulting iPSCs had a normal karyotype. The iPSCs also showed pluripotency, as confirmed by immunofluorescence staining, and differentiated into the three germ layers in vivo. This cellular model will provide a useful platform for investigating the pathogenic mechanisms of deafness related to GJB2 mutations.

Publication types

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

MeSH terms

Adult
Female
Hearing Loss / genetics
Humans
Induced Pluripotent Stem Cells / metabolism*
Mutation