Marthaler Adele G, Tubsuwan Alisa, Schmid Benjamin, Poulsen Ulla B, Engelbrecht Alexander F, Mau-Holzmann Ulrike A, Hyttel Poul, Nielsen Troels T, Nielsen Jørgen E, Holst Bjørn
Department of Clinical and Veterinary Animal Science, Copenhagen University, Grønnegårdsvej 7, 1870 Frederiksberg C, Denmark; Neurogenetic Research Laboratory, Danish Dementia Research Centre, Department of Neurology, Rigshospitalet, University of Copenhagen, Blegdamsvej 9, 2100 Copenhagen, Denmark.
Bioneer A/S, Kogle Allé 2, 2970 Hørsholm, Denmark; Stem Cell Research Group, Institute of Molecular Biosciences, Mahidol University, Nakhon Pathom 73170, Thailand.
Stem Cell Res. 2016 Jan;16(1):202-5. doi: 10.1016/j.scr.2015.12.048. Epub 2016 Jan 15.
Spinocerebellar ataxia type 2 (SCA2) is a neurodegenerative disease primarily affecting the cerebellum. Very little is known about the molecular mechanisms underlying the disease and, to date, no cure or treatment is available. We have successfully generated bona fide induced pluripotent stem cell (iPSC) lines of SCA2 patients in order to study a disease-specific phenotype. Here, we demonstrate the gene correction of the iPSC line H266 clone 10 where we have exchanged the expanded CAG repeat of the ATXN2 gene with the normal length found in healthy alleles. This gene corrected cell line will provide the ideal control to model SCA2 by iPSC technology.
2型脊髓小脑共济失调（SCA2）是一种主要影响小脑的神经退行性疾病。对于该疾病的分子机制知之甚少，迄今为止，尚无治愈方法或治疗手段。为了研究疾病特异性表型，我们成功建立了SCA2患者的真正诱导多能干细胞（iPSC）系。在此，我们展示了iPSC系H266克隆10的基因校正，我们将ATXN2基因中扩增的CAG重复序列替换为健康等位基因中发现的正常长度。这种基因校正的细胞系将为通过iPSC技术模拟SCA2提供理想的对照。
