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

doi:10.1016/j.scr.2021.102599

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

Stem Cell Res. 2022 Jan:58:102599. doi: 10.1016/j.scr.2021.102599. Epub 2021 Dec 3.

Authors

Brett M Colbert¹, Nicholas C Gosstola², Derek M Dykxhoorn³, Xue Zhong Liu⁴

Affiliations

¹ Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL 33136, USA; Medical Scientist Training Program, University of Miami Miller School of Medicine, Miami, FL 33136, USA.
² Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL 33136, USA.
³ John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA. Electronic address: ddykxhoorn@med.miami.edu.
⁴ Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL 33136, USA; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA; Interdisciplinary Stem Cell Institute, University of Miami Miller School of Medicine, Miami, FL 33136, USA.

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

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.

Publication types

Research Support, N.I.H., Extramural

MeSH terms

Connexin 26 / genetics*
Connexin 26 / metabolism
Connexins / genetics
Connexins / metabolism
Hearing Loss* / genetics
Hearing Loss* / metabolism
Humans
Induced Pluripotent Stem Cells* / metabolism
Mutation / genetics

Substances

Connexins
GJB2 protein, human
Connexin 26