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. 2018 Apr;28:145-148.
doi: 10.1016/j.scr.2018.02.014. Epub 2018 Feb 21.

Generation of Induced Pluripotent Stem Cell Line, CSSi004-A (2962), From a Patient Diagnosed With Huntington's Disease at the Presymptomatic Stage

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Generation of Induced Pluripotent Stem Cell Line, CSSi004-A (2962), From a Patient Diagnosed With Huntington's Disease at the Presymptomatic Stage

Eris Bidollari et al. Stem Cell Res. .
Free article

Abstract

Huntington's disease (HD) is an incurable, autosomal dominant, hereditary neurodegenerative disorder that typically manifests itself in midlife. This pathology is linked to the deregulation of multiple, as yet unknown, cellular processes starting before HD onset. A human iPS cell line was generated from skin fibroblasts of a subject at the presymptomatic life stage, carrying a polyglutamine expansion in HTT gene codifying Huntingtin protein. The iPSC line contained the expected CAG expansion, expressed the expected pluripotency markers, displayed in vivo differentiation potential to the three germ layers and had a normal karyotype.

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