Generation of a human iPS cell line (CGMH.SLC26A4919-2) from a Pendred syndrome patient carrying SLC26A4 c.919-2A>G splice-site mutation

Yen-Fu Cheng; Yen-Hui Chan; Chin-Ju Hu; Ying-Chang Lu; Tsubasa Saeki; Makoto Hosoya; Chika Saegusa; Masato Fujioka; Hideyuki Okano; Shih-Ming Weng; Chuan-Jen Hsu; Kuo-Hsuan Chang; Chen-Chi Wu

Stem Cell Research (Oct 2019)

Generation of a human iPS cell line (CGMH.SLC26A4919-2) from a Pendred syndrome patient carrying SLC26A4 c.919-2A>G splice-site mutation

Yen-Fu Cheng,
Yen-Hui Chan,
Chin-Ju Hu,
Ying-Chang Lu,
Tsubasa Saeki,
Makoto Hosoya,
Chika Saegusa,
Masato Fujioka,
Hideyuki Okano,
Shih-Ming Weng,
Chuan-Jen Hsu,
Kuo-Hsuan Chang,
Chen-Chi Wu

Affiliations

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; School of Medicine, National Yang-Ming University, Taipei, Taiwan; Department of Speech Language Pathology and Audiology, National Taipei University of Nursing Health Sciences, Taipei, Taiwan
Yen-Hui Chan: Department of Otolaryngology, National Taiwan University Hospital, Taipei, Taiwan; Department of Otolaryngology, Taichung Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, Taichung, Taiwan
Chin-Ju Hu: Department of Otolaryngology, National Taiwan University Hospital, Taipei, Taiwan
Ying-Chang Lu: Department of Otolaryngology, National Taiwan University Hospital, Taipei, Taiwan
Tsubasa Saeki: Department of Physiology, Keio University School of Medicine, Tokyo, Japan
Makoto Hosoya: Department of Otorhinolaryngology, Keio University School of Medicine, Tokyo, Japan
Chika Saegusa: Department of Otorhinolaryngology, Keio University School of Medicine, Tokyo, Japan
Masato Fujioka: Department of Otorhinolaryngology, Keio University School of Medicine, Tokyo, Japan
Hideyuki Okano: Department of Physiology, Keio University School of Medicine, Tokyo, Japan
Shih-Ming Weng: Department of Speech Language Pathology and Audiology, National Taipei University of Nursing Health Sciences, Taipei, Taiwan; Department of Pediatrics, Wan Fang Hospital, Taipei Medical University, Taipei, Taiwan
Chuan-Jen Hsu: Department of Otolaryngology, Taichung Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, Taichung, Taiwan
Kuo-Hsuan Chang: Department of Neurology, Chang Gung Memorial Hospital and University School of Medicine, Taoyuan, Taiwan; Correspondence to: Kuo-Hsiang Chang, Department of Neurology, Chang Gung Memorial Hospital and University School of Medicine, Taoyuan, Taiwan
Chen-Chi Wu: Department of Otolaryngology, National Taiwan University Hospital, Taipei, Taiwan; Correspondence to: Chen-Chi Wu, Department of Otolaryngology, National Taiwan University Hospital, Taipei, Taiwan.

Journal volume & issue: Vol. 40

Abstract

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SLC26A4 is the second most frequent gene implicated in congenital hearing loss after GJB2 mutations. Here, we report the generation of induced pluripotent stem cells (iPSCs), from a patient who was carrying a homozygous c.919-2A>G variant in the SLC26A4 gene. This is the most common variant of SLC26A4 gene in the Chinese population and the second most prevalent one in other Asian countries. The established patient-derived iPSC displayed all the features of pluripotent stem cell markers and had the ability to differentiate into all of the three germ layers and possessed a normal karyotype.

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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