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

• Published in: Russian journal of developmental biology Vol. 54; no. 1; pp. 88 - 95
• Main Authors: Malakhova, A. A., Pavlova, S. V., Grigor’eva, E. V., Medvedev, S. P., Minina, J. M., Vyatkin, Y. V., Khabarova, E. A., Rzaev, J. A., Kovalenko, L. V., Zakian, S. M.
• Format: Journal Article
• Language: English
• Published: Moscow Pleiades Publishing 01.02.2023; Springer Nature B.V
• Subjects: Animal Anatomy; Basal ganglia; Biomedical and Life Sciences; Blood cells; Central nervous system diseases; Collection of Pluripotent Stem Cell Lines; Cytology; Developmental Biology; Genetic diversity; Histology; Karyotypes; Life Sciences; LRRK2 protein; Morphology; Movement disorders; Neurodegenerative diseases; Oct-4 protein; Parkinson's disease; Pluripotency; PTEN-induced putative kinase; Stem cells; reprogramming; induced pluripotent stem cells; Parkinson’s disease
• ISSN: 1062-3604; 1608-3326
• DOI: 10.1134/S1062360423010071

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.