期刊
STEM CELL RESEARCH
卷 31, 期 -, 页码 216-221出版社
ELSEVIER
DOI: 10.1016/j.scr.2018.08.008
关键词
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资金
- Council of Scientific AMP
- Industrial Research (CSIR) [BSC0123]
- Shanta Wadhwani Centre for Cardiac and Neural Research (SWCCNR)
- InStem
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 fill 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.
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