https://scholars.lib.ntu.edu.tw/handle/123456789/481711
標題: | Generation of induced pluripotent stem cells from a patient with hearing loss carrying GJB2 p.V37I mutation | 作者: | Chan, Yen Hui Cheng, Yen Fu YOU-TZUNG CHEN Huang, Cheng Yen CHIN-HSIEN LIN Hu, Chin Ju Lu, Ying Chang Chen-Chi Wu Hsu, Chuan Jen |
公開日期: | 1-十二月-2018 | 出版社: | ELSEVIER SCIENCE BV | 卷: | 33 | 起(迄)頁: | 51 | 來源出版物: | Stem Cell Research | 摘要: | © 2018 Recessive mutations in the GJB2 gene are the most common genetic cause of hearing loss in humans. By using the Sendai-virus delivery system, we generated induced pluripotent stem cells (iPSCs) from the peripheral blood mononuclear cells of a female patient with the p.V37I (c.109G > A) mutation, a GJB2 mutation highly prevalent in the Asian population. The resulting iPSCs had a normal karyotype. The iPSCs also showed pluripotency, as confirmed by immunofluorescence staining, and differentiated into the three germ layers in vivo. This cellular model will provide a useful platform for investigating the pathogenic mechanisms of deafness related to GJB2 mutations. |
URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/481711 | ISSN: | 18735061 | DOI: | 10.1016/j.scr.2018.10.002 |
顯示於: | 醫學系 |
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