https://scholars.lib.ntu.edu.tw/handle/123456789/623269
標題: | Generation of induced pluripotent stem cells from a patient with hearing loss carrying OPA1 c.1468T>C (p.Cys490Arg) variant | 作者: | Chan, Yen-Hui Ho, Chang-Han Tsai, Cheng-Yu Lu, Ying-Chang PEI-HSUAN LIN TA-CHING CHEN YOU-TZUNG CHEN Huang, Cheng-Yen TIEN-CHEN LIU Hsu, Chuan-Jen CHEN-CHI WU Hsu, Chuan-Jen |
公開日期: | 26-八月-2022 | 出版社: | Elsevier B.V. | 卷: | 64 | 來源出版物: | Stem Cell Research | 摘要: | Pathogenic variants of OPA1 have been associated with autosomal dominant optic atrophy (DOA), leading to optic, auditory, and other sensorineural neuropathies and myopathies. Using the Sendai virus delivery system, we generated induced pluripotent stem cells from the peripheral blood mononuclear cells of a female patient with the OPA1 pathogenic variant c.1468T>C (p.Cys490Arg). The resulting induced pluripotent stem cells exhibited a normal karyotype and pluripotency, as confirmed using immunofluorescence staining, and differentiated into three germ layers in vivo. This cellular model is a useful platform for investigating the pathogenic mechanisms of both blindness and deafness related to OPA1 variants. |
URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/623269 | ISSN: | 18735061 | DOI: | 10.1016/j.scr.2022.102903 |
顯示於: | 基因體暨蛋白體醫學研究所 |
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