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

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

doi:10.1016/j.scr.2021.102651

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

Stem Cell Res. 2022 Mar:59:102651. doi: 10.1016/j.scr.2021.102651. Epub 2021 Dec 31.

Affiliations

¹ Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Novosibirsk, Russia. Electronic address: [email protected].
² Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Novosibirsk, Russia; Novosibirsk State University, Novosibirsk, Russia.
³ Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Novosibirsk, Russia.
⁴ Novosibirsk State University, Novosibirsk, Russia.
⁵ FSBI Federal Neurosurgical Center, Novosibirsk, Russia.

PMID: 35007918
DOI: 10.1016/j.scr.2021.102651

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.