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

doi:10.1016/j.scr.2022.102758

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

Stem Cell Res. 2022 May:61:102758. doi: 10.1016/j.scr.2022.102758. Epub 2022 Mar 21.

Authors

Pei-Ciao Tang¹, Marie V Roche², Se Young Um², Nicholas C Gosstola³, Min Young Kim⁴, Byung Yoon Choi⁴, Derek M Dykxhoorn⁵, Xue Zhong Liu⁶

Affiliations

¹ Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL 33136, USA.
² Department of Biochemistry and Molecular Biology, University of Miami Miller School of Medicine, Miami, FL 33136, USA.
³ 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.
⁴ Department of Otorhinolaryngology, Seoul National University Bundang Hospital, Seongnam 13620, Republic of Korea.
⁵ 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.
⁶ 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.

Abstract

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.

Publication types

Research Support, N.I.H., Extramural

MeSH terms

Cell Line
Cochlea
Hearing Loss, Central* / genetics
Hearing Loss, Central* / therapy
Humans
Induced Pluripotent Stem Cells*
Membrane Proteins

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

Authors

Affiliations

Abstract

Publication types

MeSH terms

Substances

Supplementary concepts

Grants and funding