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 pluripot...

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Autores principales: Tang, Pei-Ciao, Roche, Marie V, Young Um, Se, Gosstola, Nicholas C, Young Kim, Min, Yoon Choi, Byung, Dykxhoorn, Derek M, Zhong Liu, Xue
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9089836/
https://www.ncbi.nlm.nih.gov/pubmed/35364395
http://dx.doi.org/10.1016/j.scr.2022.102758
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author Tang, Pei-Ciao
Roche, Marie V
Young Um, Se
Gosstola, Nicholas C
Young Kim, Min
Yoon Choi, Byung
Dykxhoorn, Derek M
Zhong Liu, Xue
author_facet Tang, Pei-Ciao
Roche, Marie V
Young Um, Se
Gosstola, Nicholas C
Young Kim, Min
Yoon Choi, Byung
Dykxhoorn, Derek M
Zhong Liu, Xue
author_sort Tang, Pei-Ciao
collection PubMed
description 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.
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spelling pubmed-90898362022-05-10 Characterization of an induced pluripotent stem cell line (UMi040-A) bearing an auditory neuropathy spectrum disorder-associated variant in TMEM43 Tang, Pei-Ciao Roche, Marie V Young Um, Se Gosstola, Nicholas C Young Kim, Min Yoon Choi, Byung Dykxhoorn, Derek M Zhong Liu, Xue Stem Cell Res Article 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. 2022-05 2022-03-21 /pmc/articles/PMC9089836/ /pubmed/35364395 http://dx.doi.org/10.1016/j.scr.2022.102758 Text en https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) ).
spellingShingle Article
Tang, Pei-Ciao
Roche, Marie V
Young Um, Se
Gosstola, Nicholas C
Young Kim, Min
Yoon Choi, Byung
Dykxhoorn, Derek M
Zhong Liu, Xue
Characterization of an induced pluripotent stem cell line (UMi040-A) bearing an auditory neuropathy spectrum disorder-associated variant in TMEM43
title Characterization of an induced pluripotent stem cell line (UMi040-A) bearing an auditory neuropathy spectrum disorder-associated variant in TMEM43
title_full Characterization of an induced pluripotent stem cell line (UMi040-A) bearing an auditory neuropathy spectrum disorder-associated variant in TMEM43
title_fullStr Characterization of an induced pluripotent stem cell line (UMi040-A) bearing an auditory neuropathy spectrum disorder-associated variant in TMEM43
title_full_unstemmed Characterization of an induced pluripotent stem cell line (UMi040-A) bearing an auditory neuropathy spectrum disorder-associated variant in TMEM43
title_short Characterization of an induced pluripotent stem cell line (UMi040-A) bearing an auditory neuropathy spectrum disorder-associated variant in TMEM43
title_sort characterization of an induced pluripotent stem cell line (umi040-a) bearing an auditory neuropathy spectrum disorder-associated variant in tmem43
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9089836/
https://www.ncbi.nlm.nih.gov/pubmed/35364395
http://dx.doi.org/10.1016/j.scr.2022.102758
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