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Article

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

Stem cell research - 1 Jan 2022

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

Abstract excerpt

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...

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Identifiers

PMID: 34883447
DOI: 10.1016/j.scr.2021.102599

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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