Ritthaphai Alisa, Wattanapanitch Methichit, Pithukpakorn Manop, Heepchantree Worapa, Soi-Ampornkul Rungtip, Mahaisavariya Panchalee, Triwongwaranat Daranporn, Pattanapanyasat Kovit, Vatanashevanopakorn Chinnavuth
Department of Biochemistry, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand; Siriraj Center for Regenerative Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Siriraj Center for Regenerative Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Stem Cell Res. 2018 Jul;30:113-116. doi: 10.1016/j.scr.2018.05.012. Epub 2018 May 21.
Dermal fibroblasts were obtained from a 48-year-old female patient with spinocerebellar ataxia type 3 (SCA3). Fibroblasts were reprogrammed by nucleofection with episomal plasmids, carrying L-MYC, LIN28, OCT4, SOX2, KLF4, EBNA-1 and shRNA against p53. The SCA3 patient-specific iPSC line, MUSIi004-A, was characterized by immunofluorescence staining to verify the expression of pluripotent markers. The iPSC line exhibited an ability to differentiate into three germ layers by embryoid body (EB) formation. Karyotypic analysis of the MUSIi004-A line was normal. The mutant allele was still present in the iPSC line. This iPSC line represents a useful tool for studying neurodegeneration in SCA3.
皮肤成纤维细胞取自一名48岁的3型脊髓小脑共济失调（SCA3）女性患者。通过用携带L-MYC、LIN28、OCT4、SOX2、KLF4、EBNA-1和针对p53的短发夹RNA（shRNA）的附加体质粒进行核转染，将成纤维细胞重编程。通过免疫荧光染色对SCA3患者特异性诱导多能干细胞系MUSIi004-A进行表征，以验证多能性标志物的表达。该诱导多能干细胞系通过形成胚状体（EB）表现出分化为三个胚层的能力。对MUSIi004-A系进行的核型分析正常。突变等位基因仍存在于该诱导多能干细胞系中。该诱导多能干细胞系是研究SCA3神经退行性变的有用工具。
