Generation of hiPSC line UMi030-A from an individual with the hearing loss-related GJB2 mutation c.109G > A

Brett M. Colbert, Nicholas C. Gosstola, Derek M. Dykxhoorn, Xue Zhong Liu

Research output: Contribution to journalArticlepeer-review

Abstract

Genetic variants in the GJB2 gene which encodes for the Connexin 26 protein account for ∼ 60% of cases of genetic hearing loss. A novel hiPSC line was generated from an individual with the hearing loss-related variant c.109G > A in GJB2 leading to the p.V37I alteration in the Connexin26 protein. These cells will help to delineate the role of GJB2 in hearing loss pathogenesis and serve as a platform for drug discovery and development.

Original languageEnglish (US)
Article number102599
JournalStem Cell Research
Volume58
DOIs
StatePublished - Jan 2022

ASJC Scopus subject areas

  • Developmental Biology
  • Cell Biology

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