| Autor: |
Ichiro Fukunaga, Yoko Oe, Keiko Danzaki, Sayaka Ohta, Cheng Chen, Madoka Iizumi, Takahiro Shiga, Rina Matsuoka, Takashi Anzai, Remi Hibiya-Motegi, Shori Tajima, Katsuhisa Ikeda, Wado Akamatsu, Kazusaku Kamiya |
| Jazyk: |
angličtina |
| Rok vydání: |
2021 |
| Předmět: |
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| Zdroj: |
Stem Cell Research, Vol 53, Iss , Pp 102290- (2021) |
| Druh dokumentu: |
article |
| ISSN: |
1873-5061 |
| DOI: |
10.1016/j.scr.2021.102290 |
| Popis: |
The gap junction beta-2 (GJB2) gene is the most common genetic cause of hereditary deafness worldwide. Among them, the G45E/Y136X mutation in GJB2 is the third most prevalent in Japan. In this study, we generated two induced pluripotent stem cell (iPSC) lines from peripheral blood mononuclear cells (PBMCs) of siblings with moderate-to-severe hearing loss (patient) or normal hearing (genetic carrier) carrying a homozygous or heterozygous G45E/Y136X mutation in GJB2 gene, respectively. These iPSC lines showed the expression of pluripotency markers and could differentiate into three germ layers. These disease-specific iPSC lines will be a powerful tool for investigating the pathogenesis of GJB2-related deafness. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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