Russian Journal of Developmental Biology. Vol. 54, No. 1, Pages 88-95, 2023

A. A. Malakhova^a^,^b^,^c^, *, S. V. Pavlova^a^,^b^,^c, E. V. Grigor’eva^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—Parkinson’s disease is a neurodegenerative disease, and genetic variants are known in only 5% of cases. Analysis of clinical exome of a patient with a family history of Parkinsonism revealed polymorphisms in the LRRK2 and PINK1 genes. The patient’s mononuclear blood cells are reprogrammed to a pluripotent state using episomal vectors expressing pluripotency factors. The line of induced pluripotent stem cells (iPSCs) demonstrated the typical morphology of human pluripotent cells, had a normal karyotype, expressed OCT4, NANOG, SOX2, and TRA-1-60 and gave derivatives of three germ layers during spontaneous differentiation in vitro. The resulting iPSCs line is a valuable tool for studying the contribution of polymorphic variants of the LRRK2 and PINK1 genes to the pathogenesis of Parkinson’s disease.

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

An Induced Pluripotent Stem Cell Line (ICGi023-A) Obtained from a Patient with Parkinson’s Disease Associated Polymorphisms in LRRK2 and PINK1 Genes