https://scholars.lib.ntu.edu.tw/handle/123456789/633255
標題: | Generation of induced pluripotent stem cells (IBMSi027-A) from a patient with hearing loss carrying WFS1 c.2051C > T (p.Ala684Val) variant | 作者: | Chan, Yen-Hui Tsai, Cheng-Yu Ho, Chang-Han Lu, Ying-Chang PEI-HSUAN LIN TA-CHING CHEN YOU-TZUNG CHEN Huang, Cheng-Yen TIEN-CHEN LIU Hsu, Chuan-Jen CHEN-CHI WU |
公開日期: | 六月-2023 | 卷: | 69 | 來源出版物: | Stem Cell Research | 摘要: | Pathogenic variants of the WFS1 gene can cause recessive-inherited Wolfram syndrome or dominant-inherited Wolfram-like syndrome with optic atrophy and hearing impairment. Using the Sendai virus delivery system, we generated induced pluripotent stem cells from the peripheral blood mononuclear cells of a female patient with the WFS1 pathogenic variant c.2051C > T (p.Ala684Val). 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 provides a useful platform for investigating the pathogenic mechanisms of both blindness and deafness related to WFS1 variants. |
URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/633255 | ISSN: | 18735061 | DOI: | 10.1016/j.scr.2023.103068 |
顯示於: | 基因體暨蛋白體醫學研究所 |
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