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    Please use this identifier to cite or link to this item: http://asiair.asia.edu.tw/ir/handle/310904400/111365


    Title: Generation of novel induced pluripotent stem cell;iPSC;line from a 16-year-old Sialidosis patient with NEU-1 gene mutation
    Authors: 劉詩平;Liu, Shih-Ping;Hsu, Yu-Hung;Hsu, Yu-Hung;Ching-Ying, H;Huang, Ching-Ying;Ming-Ching, H;Ho, Ming-Ching;Cheng, Yu-Che;Cheng, Yu-Che;We, Cheng-Hao;Wen, Cheng-Hao;Lu, Huai-En;Lu, Huai-En;Tsa, Chon-Haw;Tsai, Chon-Haw;徐偉成;Patrick, C.H.;Hsieh*, Patrick C.H.
    Contributors: 社會工作學系
    Date: 2018-01
    Issue Date: 2018-08-20 09:46:19 (UTC+8)
    Abstract: Sialidosis is a rare autosomal recessive disorder that affects the intralysosomal catabolism of sialylated glycoconjugates and is involved in cellular immune response. Mutations in NEU1, which encodes the sialidase enzyme, result in sialidosis. Sialidosis is characterized by the progressive lysosomal storage of sialylated glycopeptides and oligosaccharides. In this study, we used Sendai virus reprogramming to generate an induced pluripotent stem cell (iPSC) line carrying the A544G mutation combined with the 667-679 deletion of the NEU1 gene from a sialidosis patient. The patient-specific iPSCs expressed pluripotent markers, possessed a normal karyotype, and displayed the capability to differentiate into three germ layers.
    Relation: Stem Cell Research
    Appears in Collections:[社會工作學系] 期刊論文

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