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

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish (US)
Article number102758
JournalStem Cell Research
Volume61
DOIs
StatePublished - May 2022
Externally publishedYes

ASJC Scopus subject areas

  • Developmental Biology
  • Cell Biology

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