Hayer Stefanie Nicole, Schelling Yvonne, Huebener-Schmid Jeannette, Weber Jonasz Jeremiasz, Hauser Stefan, Schöls Ludger
Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research & Center of Neurology, University of Tübingen, Tübingen, Germany; German Research Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany.
German Research Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany.
Stem Cell Res. 2018 Jul;30:171-174. doi: 10.1016/j.scr.2018.06.006. Epub 2018 Jun 11.
A skin biopsy of a patient with spinocerebellar ataxia type 3 (SCA3, also known as Machado-Joseph disease (MJD)) caused by a CAG trinucleotide repeat expansion in the ATXN3 gene, was used to generate an induced pluripotent stem cell line, HIHCNi002-A (iPSC-SCA3). Skin fibroblasts were reprogrammed using episomal plasmids carrying hOCT4, hSOX2, hKLF4, hL-MYC, and hLIN28. The iPSC-SCA3 line exhibits chromosomal stability with conservation of the ATXN3 repeat expansion, expresses pluripotency markers and differentiates into endo-, meso-, and ectodermal cells in vitro.
对一名患有3型脊髓小脑共济失调（SCA3，也称为马查多-约瑟夫病（MJD））的患者进行皮肤活检，该疾病由ATXN3基因中的CAG三核苷酸重复扩增引起，利用其生成了诱导多能干细胞系HIHCNi002-A（iPSC-SCA3）。使用携带hOCT4、hSOX2、hKLF4、hL-MYC和hLIN28的附加体质粒对皮肤成纤维细胞进行重编程。iPSC-SCA3系表现出染色体稳定性，且保留了ATXN3重复扩增，表达多能性标志物，并在体外分化为内胚层、中胚层和外胚层细胞。
