Generation of an Induced Pluripotent Stem Cell Line, ICGi043-A, by Reprogramming Peripheral Blood Mononuclear Cells from Parkinson’s Disease Patient with p.G2019S Mutation in  LRRK2  Gene

E. V. Grigor’eva; Григорьева Е. В.; S. P. Medvedev; Медведев С. П.; S. N. Pchelina; Пчелина С. Н.; M. A. Nikolaev; Николаев М. А.; I. V. Miliukhina; Милюхина И. В.; J. M. Minina; Минина Ю. М.; D. A. Sorogina; Сорогина Д. А.; E. S. Yarkova; Яркова Е. С.; A. A. Malakhova; Малахова А. А.; S. V. Pavlova; Павлова С. В.; S. M. Zakian; Закиян С. М.

doi:10.31857/S0475145023010056

Generation of an Induced Pluripotent Stem Cell Line, ICGi043-A, by Reprogramming Peripheral Blood Mononuclear Cells from Parkinson’s Disease Patient with p.G2019S Mutation in LRRK2 Gene

Authors: Grigor’eva E.V.¹, Medvedev S.P.¹, Pchelina S.N.², Nikolaev M.A.², Miliukhina I.V.³, Minina J.M.¹, Sorogina D.A.¹, Yarkova E.S.¹, Malakhova A.A.¹, Pavlova S.V.¹, Zakian S.M.¹
Affiliations:
1. Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences
2. Pavlov First Saint Petersburg State Medical University
3. Behtereva Institute of the Human Brain of the Russian Academy of Sciences
Issue: Vol 54, No 1 (2023)
Pages: 79-86
Section: Collection of pluripotent stem cell lines
URL: https://rjsvd.com/0475-1450/article/view/669968
DOI: https://doi.org/10.31857/S0475145023010056
EDN: https://elibrary.ru/FQQEBY
ID: 669968

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Abstract
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Abstract

The pathological variant p.G2019S in the LRRK2 gene leads to the occurrence of a hereditary form of Parkinson’s disease (PD) and affects 7% of patients with a familial form of the disease. However, the mechanisms that trigger pathological events during the development of the disease are not yet fully understood. We obtained iPSCs (ICGi043-A line) from peripheral blood mononuclear cells of a patient with a hereditary form of PD associated with the genetic variant c.6055G>A (p.G2019S, rs34637584) in the LRRK2 gene using transfection with episomal vectors. iPSCs rapidly proliferate in dense monolayer cell colonies, are positive for endogenous alkaline phosphatase, have a normal karyotype (46,XX), express pluripotency markers (OCT4, SOX2, NANOG, TRA-1-60, SSEA-4) and are able to differentiate into three germ layers (ecto-, endo- and mesoderm), which confirms their pluripotent status. Future directed differentiation of the obtained iPSCs into dopaminergic neurons will allow the creation of an in vitro cell model of PD associated with the pathological variant c.6055G>A in the LRRK2 gene, and contribute to understanding the pathogenesis of PD.

Keywords

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

References

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