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

Stem Cell Research (Jan 2022)

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

Affiliations

Brett M. Colbert: 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
Nicholas C. Gosstola: Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL 33136, USA
Derek M. Dykxhoorn: John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA; Corresponding authors at: University of Miami Miller School of Medicine, 1120 NW 14th Street, 5th Floor, Miami, FL 33136, USA (X.-Z. Liu); John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, 1501 NW 10th Ave, Biomedical Research Building, Room 509, Miami, USA (D.M. Dykxhoorn).
Xue Zhong Liu: 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; Corresponding authors at: University of Miami Miller School of Medicine, 1120 NW 14th Street, 5th Floor, Miami, FL 33136, USA (X.-Z. Liu); John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, 1501 NW 10th Ave, Biomedical Research Building, Room 509, Miami, USA (D.M. Dykxhoorn).

Journal volume & issue: Vol. 58
p. 102599

Abstract

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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.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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