Establishment of an induced pluripotent stem cell (iPSC) line from a 7-year-old male patient with profound hearing loss carrying c.235delC in GJB2 gene

Chun-Ying Huang; Yi-Hsiu Tsai; Yi-Ching Tsai; Ying-Chang Lu; Yen-Hui Chan; Chuan-Jen Hsu; Shih-Hwa Chiou; Chen-Chi Wu; Yen-Fu Cheng

doi:10.1016/j.scr.2020.101795

Establishment of an induced pluripotent stem cell (iPSC) line from a 7-year-old male patient with profound hearing loss carrying c.235delC in GJB2 gene

Stem Cell Res. 2020 May:45:101795. doi: 10.1016/j.scr.2020.101795. Epub 2020 Apr 26.

Authors

Chun-Ying Huang¹, Yi-Hsiu Tsai¹, Yi-Ching Tsai¹, Ying-Chang Lu², Yen-Hui Chan³, Chuan-Jen Hsu⁴, Shih-Hwa Chiou⁵, Chen-Chi Wu⁶, Yen-Fu Cheng⁷

Affiliations

¹ Department of Medical Research, Taipei Veterans General Hospital, Taipei, Taiwan.
² Department of Otolaryngology, National Taiwan University Hospital, Taipei, Taiwan.
³ Department of Otolaryngology, National Taiwan University Hospital, Taipei, Taiwan; Department of Otolaryngology, Taichung Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, Taichung, Taiwan.
⁴ Department of Otolaryngology, Taichung Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, Taichung, Taiwan.
⁵ Department of Medical Research, Taipei Veterans General Hospital, Taipei, Taiwan; Institute of Pharmacology, School of Medicine, National Yang-Ming University, Taipei, Taiwan.
⁶ Department of Otolaryngology, National Taiwan University Hospital, Taipei, Taiwan. Electronic address: chenchiwu@ntuh.gov.tw.
⁷ 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. Electronic address: yfcheng2@vghtpe.gov.tw.

PMID: 32388442
DOI: 10.1016/j.scr.2020.101795

Abstract

Gap junction protein beta 2 gene (GJB2) mutations are the most frequent cause of hereditary hearing impairment. The recessive c.235delC mutation in the GJB2 gene is the most common mutation causing severe to profound sensorineural hearing loss in the Asian population. The induced pluripotent stem cell (iPSC) line was generated using the integration-free Sendai virus method from peripheral blood mononuclear cells (PBMCs) of a hearing-impaired patient with homozygous GJB2 c.235delC mutation. This cell line may serve as a cellular model for studying the pathogenic mechanisms of deafness caused by GJB2 mutations.

Publication types

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

MeSH terms

Child
Deafness*
Hearing Loss*
Hearing Loss, Sensorineural*
Humans
Induced Pluripotent Stem Cells*
Leukocytes, Mononuclear
Male