Hansen Susanne K, Borland Helena, Hasholt Lis F, Tümer Zeynep, Nielsen Jørgen E, Rasmussen Mikkel A, Nielsen Troels T, Stummann Tina C, Fog Karina, Hyttel Poul
Department of Veterinary Clinical and Animal Sciences, University of Copenhagen, Groennegårdsvej 7, 1870 Frb C, Denmark; H. Lundbeck A/S, Ottiliavej 9, Valby 2500, Denmark.
H. Lundbeck A/S, Ottiliavej 9, Valby 2500, Denmark.
Stem Cell Res. 2016 May;16(3):589-92. doi: 10.1016/j.scr.2016.02.042. Epub 2016 Mar 8.
Spinocerebellar ataxia type 3 (SCA3) is a dominantly inherited neurodegenerative disease caused by an expansion of the CAG-repeat in ATXN3. In this study, induced pluripotent stem cells (iPSCs) were generated from SCA3 patient dermal fibroblasts by electroporation with episomal plasmids encoding L-MYC, LIN28, SOX2, KLF4, OCT4 and short hairpin RNA targeting P53. The resulting iPSCs had normal karyotype, were free of integrated episomal plasmids, expressed pluripotency markers, could differentiate into the three germ layers in vitro and retained the disease-causing ATXN3 mutation. Potentially, this iPSC line could be a useful tool for the investigation of SCA3 disease mechanisms.
3型脊髓小脑共济失调（SCA3）是一种由ATXN3基因中CAG重复序列扩增引起的常染色体显性遗传神经退行性疾病。在本研究中，通过用编码L-MYC、LIN28、SOX2、KLF4、OCT4和靶向P53的短发夹RNA的附加体质粒进行电穿孔，从SCA3患者的皮肤成纤维细胞中生成了诱导多能干细胞（iPSC）。所产生的iPSC具有正常的核型，不含整合的附加体质粒，表达多能性标志物，可在体外分化为三个胚层，并保留致病的ATXN3突变。该iPSC系可能是研究SCA3疾病机制的有用工具。
