Grigor'eva E V, Malankhanova T B, Surumbayeva A, Minina J M, Morozov V V, Abramycheva N Yu, Illarioshkin S N, Malakhova A A, Zakian S M
Federal Research Center Institute of Cytology and Genetics, the Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russia; State Research Institute of Circulation Pathology, Ministry of Healthcare of the Russian Federation, Novosibirsk, Russia; Institute of Chemical Biology and Fundamental Medicine, the Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russia; National Research University, Novosibirsk State University, Novosibirsk, Russia.
Federal Research Center Institute of Cytology and Genetics, the Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russia; State Research Institute of Circulation Pathology, Ministry of Healthcare of the Russian Federation, Novosibirsk, Russia; National Research University, Novosibirsk State University, Novosibirsk, Russia.
Stem Cell Res. 2019 Jan;34:101382. doi: 10.1016/j.scr.2018.101382. Epub 2019 Jan 2.
Huntington's disease (HD) is an autosomal dominant neurodegenerative disease caused by mutation in the HTT gene encoding HTT protein. The mutant protein leads to the neuronal death through dysregulation of multiple cellular processes. HD human induced pluripotent stem cells (iPSCs) represent a useful and valid model for the disease study. iPSC line from HD patient with 47 CAG repeats in HTT was generated from blood mononuclear cells by non-integrating episomal vectors. The iPSC line retained the mutation, expressed pluripotency markers, had a normal karyotype and displayed in vitro differentiation to the three germ layers. Resource table.
亨廷顿舞蹈症（HD）是一种常染色体显性神经退行性疾病，由编码亨廷顿蛋白（HTT）的HTT基因突变引起。突变蛋白通过多种细胞过程的失调导致神经元死亡。HD人类诱导多能干细胞（iPSC）是疾病研究中一种有用且有效的模型。通过非整合型附加体载体从血液单核细胞中生成了HTT基因中含有47个CAG重复序列的HD患者的iPSC系。该iPSC系保留了突变，表达多能性标志物，具有正常的核型，并在体外分化为三个胚层。资源表。
