Characterization of an induced pluripotent stem cell line (UMi040-A) bearing an auditory neuropathy spectrum disorder-associated variant in TMEM43

Pei-Ciao Tang; Marie V Roche; Se Young Um; Nicholas C Gosstola; Min Young Kim; Byung Yoon Choi; Derek M Dykxhoorn; Xue Zhong Liu

Stem Cell Research (May 2022)

Characterization of an induced pluripotent stem cell line (UMi040-A) bearing an auditory neuropathy spectrum disorder-associated variant in TMEM43

Pei-Ciao Tang,
Marie V Roche,
Se Young Um,
Nicholas C Gosstola,
Min Young Kim,
Byung Yoon Choi,
Derek M Dykxhoorn,
Xue Zhong Liu

Affiliations

Pei-Ciao Tang: Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL 33136, USA
Marie V Roche: Department of Biochemistry and Molecular Biology, University of Miami Miller School of Medicine, Miami, FL 33136, USA
Se Young Um: Department of Biochemistry and Molecular Biology, 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; Department of Bioengineering, University of Illinois Urbana-Champaign, Urbana, IL 61801, USA
Min Young Kim: Department of Otorhinolaryngology, Seoul National University Bundang Hospital, Seongnam 13620, Republic of Korea
Byung Yoon Choi: Department of Otorhinolaryngology, Seoul National University Bundang Hospital, Seongnam 13620, Republic of Korea
Derek M Dykxhoorn: John P. Hussman Institute for Human Genomics, John T Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL 33136, USA
Xue Zhong Liu: Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL 33136, USA; Department of Biochemistry and Molecular Biology, University of Miami Miller School of Medicine, Miami, FL 33136, USA; John P. Hussman Institute for Human Genomics, John T Macdonald Foundation Department of Human Genetics, 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 author at: Professor of Otolaryngology, University of Miami Miller School of Medicine, 1120 NW 14th Street, 5th Floor, Miami, FL 33136.

Journal volume & issue: Vol. 61
p. 102758

Abstract

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Hearing loss is one of the most common sensory disorders. TMEM43 is expressed in cochlear glia-like supporting cells (GLSs) and is known to be associated with late-onset auditory neuropathy spectrum disorder (ANSD) and progressive hearing loss. Here, we describe the derivation of an induced pluripotent stem cell (iPSC) line from a patient lymphoblastoid cell line (LCL) carrying a single heterozygous nonsense variant (p.Arg372Ter (c.1114C > T)) in TMEM43 that leads to a truncated protein lacking the 4th transmembrane domain. This cell line can serve as a tool for disease modelling and development of therapeutic approaches to restore inner ear function.

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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