Buijsen Ronald A M, Gardiner Sarah L, Bouma Marga J, van der Graaf Linda M, Boogaard Merel W, Pepers Barry A, Eussen Bert, de Klein Annelies, Freund Christian, van Roon-Mom Willeke M C
Department of Human Genetics, LUMC, Leiden, The Netherlands.
Department of Human Genetics, LUMC, Leiden, The Netherlands; Department of Neurology, LUMC, Leiden, The Netherlands.
Stem Cell Res. 2018 May;29:125-128. doi: 10.1016/j.scr.2018.03.018. Epub 2018 Apr 5.
Spinocerebellar ataxia type 1 (SCA1) is a hereditary neurodegenerative disease caused by a CAG repeat expansion in exon 8 of the ATXN1 gene. We generated induced pluripotent stem cells (hiPSCs) from a SCA1 patient and his non-affected sister by using non-integrating Sendai Viruses (SeV). The resulting hiPSCs are SeVfree, express pluripotency markers, display a normal karyotype, retain the mutation (length of the CAG repeat expansion in the ATXN1 gene) and are able to differentiate into the three germ layers in vitro.
1型脊髓小脑共济失调（SCA1）是一种遗传性神经退行性疾病，由ATXN1基因第8外显子中的CAG重复序列扩增引起。我们通过使用无整合能力的仙台病毒（SeV），从一名SCA1患者及其未受影响的妹妹身上诱导产生了多能干细胞（hiPSC）。所得到的hiPSC不含SeV，表达多能性标志物，具有正常的核型，保留了突变（ATXN1基因中CAG重复序列扩增的长度），并且能够在体外分化为三个胚层。
