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

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 journal › Article › peer-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 language	English (US)
Article number	102758
Journal	Stem Cell Research
Volume	61
DOIs	https://doi.org/10.1016/j.scr.2022.102758
State	Published - May 2022
Externally published	Yes

ASJC Scopus subject areas

Developmental Biology
Cell Biology

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Characterization of an induced pluripotent stem cell line (UMi040-A) bearing an auditory neuropathy spectrum disorder-associated variant in TMEM43. / Tang, Pei Ciao; V Roche, Marie; Young Um, Se; Gosstola, Nicholas C.; Young Kim, Min; Yoon Choi, Byung; Dykxhoorn, Derek M.; Zhong Liu, Xue.

In: Stem Cell Research, Vol. 61, 102758, 05.2022.

Research output: Contribution to journal › Article › peer-review

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

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.",

author = "Tang, {Pei Ciao} and {V Roche}, Marie and {Young Um}, Se and Gosstola, {Nicholas C.} and {Young Kim}, Min and {Yoon Choi}, Byung and Dykxhoorn, {Derek M.} and {Zhong Liu}, Xue",

note = "Funding Information: This work was supported by NIH grants R01DC005575 & R01DC012115 (XZL) and R21DC019450 (P-CT). Publisher Copyright: {\textcopyright} 2022",

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AU - Gosstola, Nicholas C.

AU - Young Kim, Min

AU - Yoon Choi, Byung

AU - Dykxhoorn, Derek M.

AU - Zhong Liu, Xue

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

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