| Autor: |
Ichiro Fukunaga, Takahiro Shiga, Cheng Chen, Yoko Oe, Keiko Danzaki, Sayaka Ohta, Rina Matsuoka, Takashi Anzai, Remi Hibiya-Motegi, Shori Tajima, Katsuhisa Ikeda, Wado Akamatsu, Kazusaku Kamiya |
| Jazyk: |
angličtina |
| Rok vydání: |
2020 |
| Předmět: |
|
| Zdroj: |
Stem Cell Research, Vol 43, Iss , Pp - (2020) |
| Druh dokumentu: |
article |
| ISSN: |
1873-5061 |
| DOI: |
10.1016/j.scr.2019.101674 |
| Popis: |
The gap junction beta-2 (GJB2) gene is the most common genetic cause of hereditary deafness worldwide. Especially, V37I mutation in GJB2 is most prevalent in Southeast Asia including Thailand, Malaysia, and Indonesia. Furthermore, it is the second most prevalent cause in Japan and China, and exhibits an audiometric phenotype of mild-to-moderate hearing loss. In this study, we generated induced pluripotent stem cells (iPSC) from peripheral blood mononuclear cells (PBMCs) of patient with homozygous V37I mutation. This iPSC line will be a powerful tool for investigating the pathogenesis and for developing a treatment for GJB2-related hearing loss. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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