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

Autor:	Tang PC; Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL 33136, USA., V Roche M; Department of Biochemistry and Molecular Biology, University of Miami Miller School of Medicine, Miami, FL 33136, USA., Young Um S; Department of Biochemistry and Molecular Biology, University of Miami Miller School of Medicine, Miami, FL 33136, USA., Gosstola NC; 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., Young Kim M; Department of Otorhinolaryngology, Seoul National University Bundang Hospital, Seongnam 13620, Republic of Korea., Yoon Choi B; Department of Otorhinolaryngology, Seoul National University Bundang Hospital, Seongnam 13620, Republic of Korea., Dykxhoorn DM; 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., Zhong Liu X; 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. Electronic address: x.liu1@med.miami.edu.
Jazyk:	angličtina
Zdroj:	Stem cell research [Stem Cell Res] 2022 May; Vol. 61, pp. 102758. Date of Electronic Publication: 2022 Mar 21.
DOI:	10.1016/j.scr.2022.102758
Abstrakt:	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. (Copyright © 2022. Published by Elsevier B.V.)
Databáze:	MEDLINE
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