Russian Journal of Developmental Biology. Vol. 54, No. 1, Pages 80-87, 2023

E. V. Grigor’eva^a^,^b^,^c^, *, S. V. Pavlova^a^,^b^,^c, A. A. Malakhova^a^,^b^,^c, S. P. Medvedev^a^,^b^,^c, J. M. Minina^a, Y. V. Vyatkin^d, E. A. Khabarova^a^,^e, J. A. Rzaev^e, L. V. Kovalenko^f, and S. M. Zakian^a^,^b^,^c

^aInstitute of Cytology and Genetics, Siberian Branch, Russian Academy of Sciences, Novosibirsk, 630090 Russia

^bMeshalkin National Medical Research Center, Ministry of Health of the Russian Federation, Novosibirsk, 630055 Russia

^cInstitute of Chemical Biology and Fundamental Medicine, Siberian Branch, Russian Academy of Sciences, Novosibirsk, 630090 Russia

^fKhanty-Mansiysk Autonomous Okrug–Ugra Surgut State University, Surgut, 628403 Russia

Abstract—The search for new polymorphisms associated with hereditary diseases is important for diagnostics and the study of the disease’s development pathology. The authors have analyzed a clinical exome of a Parkinson’s disease patient and identified single-nucleotide variations in the LRRK2 (c.1000G>A, c.2167A>G) and PINK1 (c.1562A>C) genes. The LRRK2:c.1000G>A mutation has uncertain clinical significance and is interesting for further investigation. We generated induced pluripotent stem cells (iPSCs) from peripheral blood mononuclear cells (PBMCs) of the patient by nonintegrating episomal vectors. iPSCs demonstrate typical morphology and normal karyotype (46,XY), express pluripotency markers (OCT4, SOX2, NANOG, SSEA4, TRA-1-60), and are able to produce derivatives of three germ layers.

Keywords: Parkinson’s disease, induced pluripotent stem cells, polymorphisms, reprogramming

Generation of an Induced Pluripotent Stem Cell Line, ICGi042-A, by Reprogramming Peripheral Blood Mononuclear Cells from a Parkinson’s Disease Patient with c.1000G>A Mutation in the LRRK2 Gene