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

通过对患有 GBA 突变的帕金森病患者的外周血单核细胞进行重编程,生成诱导性多能干细胞系 ICGi034-A

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作者:Elena V Grigor'eva, Elena S Drozdova, Diana A Sorogina, Anastasia A Malakhova, Sofia V Pavlova, Yuri V Vyatkin, Elena A Khabarova, Jamil A Rzaev, Sergey P Medvedev, Suren M Zakian

Abstract

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.

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