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


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.

Authors Tang PC, V Roche M, Young Um S, Gosstola NC, Young Kim M, Yoon Choi B, Dykxhoorn DM, Zhong Liu X
Journal Stem cell research
Publication Date 2022 May;61:102758
PubMed 35364395
PubMed Central PMC9089836
DOI 10.1016/j.scr.2022.102758

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