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Stem Cell Res. 2019 Jul 31;40:101524. doi: 10.1016/j.scr.2019.101524. [Epub ahead of print]

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

Author information

1
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.
2
Department of Otolaryngology, National Taiwan University Hospital, Taipei, Taiwan; Department of Otolaryngology, Taichung Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, Taichung, Taiwan.
3
Department of Otolaryngology, National Taiwan University Hospital, Taipei, Taiwan.
4
Department of Physiology, Keio University School of Medicine, Tokyo, Japan.
5
Department of Otorhinolaryngology, Keio University School of Medicine, Tokyo, Japan.
6
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.
7
Department of Otolaryngology, Taichung Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, Taichung, Taiwan.
8
Department of Neurology, Chang Gung Memorial Hospital and University School of Medicine, Taoyuan, Taiwan. Electronic address: gophy5128@cgmh.org.tw.
9
Department of Otolaryngology, National Taiwan University Hospital, Taipei, Taiwan. Electronic address: chenchiwu@ntuh.gov.tw.

Abstract

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.

PMID:
31415960
DOI:
10.1016/j.scr.2019.101524
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