通过重编程来自一名患有与GBA突变相关帕金森病患者的外周血单个核细胞，生成诱导多能干细胞系ICGi034-A。
Generation of induced pluripotent stem cell line, ICGi034-A, by reprogramming peripheral blood mononuclear cells from a patient with Parkinson's disease associated with GBA mutation.
作者信息
Grigor'eva Elena V, Drozdova Elena S, Sorogina Diana A, Malakhova Anastasia A, Pavlova Sofia V, Vyatkin Yuri V, Khabarova Elena A, Rzaev Jamil A, Medvedev Sergey P, Zakian Suren M
机构信息
Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Novosibirsk, Russia.
Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Novosibirsk, Russia; Novosibirsk State University, Novosibirsk, Russia.
出版信息
Stem Cell Res. 2022 Mar;59:102651. doi: 10.1016/j.scr.2021.102651. Epub 2021 Dec 31.
Mutation in the glucocerebrosidase encoding gene (GBA) is one of the most frequent genetic cause of Parkinson's disease. ICGi034-A induced pluripotent stem cell (iPSC) line obtained by reprogramming peripheral blood mononuclear cells (PBMCs) of a patient with heterozygous c.1226A > G (p.N370S) mutation in the GBA gene can be used for studying the fundamental mechanisms of the pathogenesis of GBA-associated Parkinson's disease, and for potential drug screening. The iPSCs express pluripotency markers (NANOG, SSEA4, TRA-1-60, OCT4, SOX2), have a normal karyotype, and are capable of producing derivatives of three germ layers.
葡萄糖脑苷脂酶编码基因（GBA）突变是帕金森病最常见的遗传病因之一。通过重编程一名GBA基因杂合c.1226A>G（p.N370S）突变患者的外周血单个核细胞（PBMC）获得的ICGi034-A诱导多能干细胞（iPSC）系，可用于研究GBA相关帕金森病发病机制的基本机制，以及潜在的药物筛选。这些iPSC表达多能性标志物（NANOG、SSEA4、TRA-1-60、OCT4、SOX2），具有正常的核型，并且能够产生三个胚层的衍生物。
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