Stem Cell Research (May 2020)

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

Journal volume & issue
Vol. 45

Abstract

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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.