Bidollari Eris, Rotundo Giovannina, Ferrari Daniela, Candido Ornella, Bernardini Laura, Consoli Federica, De Luca Alessandro, Santimone Iolanda, Lamorte Giuseppe, Ilari Andrea, Squitieri Ferdinando, Vescovi Angelo Luigi, Rosati Jessica
IRCCS Casa Sollievo della Sofferenza, Cellular Reprogramming Unit, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, Italy.
Bicocca University, Biotechnology and Bioscience Department, Piazza della Scienza 2, 20126 Milan, Italy.
Stem Cell Res. 2018 Apr;28:145-148. doi: 10.1016/j.scr.2018.02.014. Epub 2018 Feb 21.
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.
亨廷顿舞蹈症（HD）是一种无法治愈的常染色体显性遗传性神经退行性疾病，通常在中年发病。这种病症与HD发病前多种尚不清楚的细胞过程失调有关。从一名处于症状前生命阶段的受试者的皮肤成纤维细胞中生成了一种人类诱导多能干细胞系，该受试者的HTT基因（编码亨廷顿蛋白）存在多聚谷氨酰胺扩增。该诱导多能干细胞系含有预期的CAG扩增，表达预期的多能性标志物，在体内向三个胚层显示分化潜能，并且具有正常的核型。
