| Literature DB >> 30130680 |
Deepak Kumar1, Ashaq Hussain2, Achal K Srivastava3, Mitali Mukerji4, Odity Mukherjee5, Mohammed Faruq6.
Abstract
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.Entities:
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Year: 2018 PMID: 30130680 DOI: 10.1016/j.scr.2018.08.008
Source DB: PubMed Journal: Stem Cell Res ISSN: 1873-5061 Impact factor: 2.020