Generation of an Induced pluripotent stem cell (iPSC) line (IGIBi011-A) from a Spinocerebellar ataxia type 12 gait dominant patient

被引:0
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作者
Zahra, Sana [1 ,3 ]
Kapoor, Himanshi [1 ]
Ahmad, Istaq [1 ,2 ]
Kamai, Asangla [1 ,3 ]
Srivastava, Achal Kumar [2 ]
Faruq, Mohammed [1 ,3 ,4 ]
机构
[1] CSIR Inst Genom & Integrat Biol, Genom & Mol Med Div, New Delhi 110007, India
[2] All India Inst Med Sci, Dept Neurol, New Delhi 110029, India
[3] Acad Sci & Innovat Res AcSIR, Ghaziabad 201002, India
[4] Applicat Genom & Stem Cells iHPSCs AG, Div Invest Human Pathol, Ghaziabad, India
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D O I
10.1016/j.scr.2024.103319
中图分类号
Q813 [细胞工程];
学科分类号
摘要
The PPP2R2B gene, expressed highly in the brain, harbours trinucleotide CAG repeats in the 5 ' UTR region, in the range of 7-42 repeats. Individuals carrying CAG repeats greater than 43 have been associated to manifest a neurodegenerative disease condition termed as Spinocerebellar Ataxia type 12 (SCA12). An iPSC line from an adult male diagnosed with SCA12 presenting symptoms of gait (Gait Dominance) was generated. It showed pluripotency and trilineage markers without any chromosomal abnormality. This line can be utilized as an essential resource in enhancing our understanding of the molecular pathogenic mechanisms underlying SCA12 by facilitating generation of various neuronal cell types.
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页数:5
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