Generation of hiPSC line UMi030-A from an individual with the hearing loss-related GJB2 mutation c.109G > A
Summary
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. Copyright © 2021. Published by Elsevier B.V.
| Authors | Colbert BM, Gosstola NC, Dykxhoorn DM, Zhong Liu X |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2022 Jan;58:102599 |
| PubMed | 34883447 |
| DOI | 10.1016/j.scr.2021.102599 |