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

*此作品的通信作者

研究成果: Article同行評審

2 引文 斯高帕斯(Scopus)

摘要

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.

原文English
文章編號101795
期刊Stem Cell Research
45
DOIs
出版狀態Published - 5月 2020

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