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

Stem Cell Research (Dec 2018)

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

Affiliations

Yen-Hui Chan: Department of Otolaryngology, Taichung Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, Taichung, Taiwan; Deparement of Otolaryngology, National Taiwan University Hospital, Taipei, Taiwan
Yen-Fu Cheng: Department of Medical Research, Taipei Veterans General Hospital, Taipei, Taiwan; Department of Otolaryngology-Head and Neck Surgery, Taipei Veterans General Hospital, Taipei, Taiwan
You-Tzung Chen: Graduate Institute of Medical Genomics and Proteomics, College of Medicine, National Taiwan University, Taipei, Taiwan
Cheng-Yen Huang: 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
Chin-Hsien Lin: Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan
Chin-Ju Hu: Deparement of Otolaryngology, National Taiwan University Hospital, Taipei, Taiwan
Ying-Chang Lu: Deparement of Otolaryngology, National Taiwan University Hospital, Taipei, Taiwan
Chen-Chi Wu: Deparement of Otolaryngology, National Taiwan University Hospital, Taipei, Taiwan; Corresponding authors.
Chuan-Jen Hsu: Department of Otolaryngology, Taichung Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, Taichung, Taiwan; Corresponding authors.

Journal volume & issue: Vol. 33
pp. 51 – 55

Abstract

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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.

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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