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

• Published in: Stem cell research Vol. 59; p. 102651
• Main Authors: 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.
• Format: Journal Article
• Language: English
• Published: England Elsevier B.V 01-03-2022; Elsevier
• ISSN: 1873-5061; 1876-7753
• DOI: 10.1016/j.scr.2021.102651

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.