| Autor: |
Pei-Ciao Tang, Marie V Roche, Se Young Um, Nicholas C Gosstola, Min Young Kim, Byung Yoon Choi, Derek M Dykxhoorn, Xue Zhong Liu |
| Jazyk: |
angličtina |
| Rok vydání: |
2022 |
| Předmět: |
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| Zdroj: |
Stem Cell Research, Vol 61, Iss , Pp 102758- (2022) |
| Druh dokumentu: |
article |
| ISSN: |
1873-5061 |
| DOI: |
10.1016/j.scr.2022.102758 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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