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


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. Copyright © 2022 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Grigor'eva EV, Drozdova ES, Sorogina DA, Malakhova AA, Pavlova SV, Vyatkin YV, Khabarova EA, Rzaev JA, Medvedev SP, Zakian SM
Journal Stem cell research
Publication Date 2021 Dec 31;59:102651
PubMed 35007918
DOI 10.1016/j.scr.2021.102651

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