Kumar Deepak, Hussain Ashaq, Srivastava Achal K, Mukerji Mitali, Mukherjee Odity, Faruq Mohammed
Genomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology (CSIR -IGIB), Mall Road, Delhi 110007, India; Department of Neurology, Neuroscience Centre, All India Institute of Medical Sciences, New Delhi 110029, India.
Jamia Hamdard (Hamdard University), New Delhi, India.
Stem Cell Res. 2018 Aug;31:216-221. doi: 10.1016/j.scr.2018.08.008. Epub 2018 Aug 14.
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.
12型脊髓小脑共济失调（SCA12）是一种神经系统疾病，由PPP2R2B基因5'非翻译区的三联体（CAG）重复扩增引起。它是印度人群中最突出的SCA亚型之一，迄今为止尚未描述过患者特异性模型。基于人诱导多能干细胞（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，我们建立了三个SCA12患者特异性的诱导多能干细胞系。所有生成的细胞系均显示出多能性标记、正常核型、体外三胚层分化潜能、载体清除、SCA12突变、亲本基因组同一性和无污染培养。
