Spinocerebellar ataxia type-12 (SCA12) is a neurological disorder caused due to triplet (CAG) repeat expansion in 5' UTR of PPP2R2B. It is one of the most prominent SCA-subtype in Indian population and till date no patient specific models have been described. Human-induced-pluripotent-stem cell (HiPSC) based disease modelling has become the next generation tool for studying various human pathologies. In the present study we established three SCA12 patient specific iPSC lines. All the generated lines have shown pluripotency markers, normal karyotype, in-vitro three germ layers differentiation potential, vector clearance, SCA12 mutation, parental genomic identity and contamination free culture.

脊髓小脑性共济失调12型（SCA12）是由于PPP2R2B的5'UTR中的三联体（CAG）重复扩增引起的神经系统疾病。它是印度人口中最突出的SCA亚型之一，迄今为止，尚未描述任何患者特异性模型。基于人类诱导的多能干细胞（HiPSC）的疾病建模已成为研究各种人类病理的下一代工具。在本研究中，我们建立了三种SCA12患者特异性iPSC品系。所有生成的品系均显示出多能性标记，正常核型，体外三个胚层分化潜能，载体清除率，SCA12突变，亲本基因组特性和无污染培养。