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Generation of an Induced Pluripotent Stem Cell Line, ICGi042-A, by Reprogramming Peripheral Blood Mononuclear Cells from Parkinson’s Disease Patient with c.1000G>A Mutation in LRRK2 Gene
- Authors: Grigor’eva E.V.1,2,3, Kovalenko L.V.4, Rzaev J.A.5, Khabarova E.A.1,5, Vyatkin Y.V.6, Minina J.M.1, Medvedev S.P.1,2,3, Malakhova A.A.1,2,3, Pavlova S.V.1,2,3, Zakian S.M.1,2,3
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Affiliations:
- Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences
- Meshalkin National Medical Research Center, Ministry of Health of the Russian Federation
- Institute of Chemical Biology and Fundamental Medicine, Siberian Branch of the Russian Academy of Sciences
- Khanty-Mansiysk Autonomous Okrug – Ugra “Surgut State University”
- FSBI Federal Neurosurgical Center
- Novosibirsk State University
- Issue: Vol 54, No 1 (2023)
- Pages: 87-95
- Section: Collection of pluripotent stem cell lines
- URL: https://journals.rcsi.science/0475-1450/article/view/137046
- DOI: https://doi.org/10.31857/S0475145023010068
- EDN: https://elibrary.ru/FRFNVG
- ID: 137046
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Abstract
The search for new polymorphisms associated with hereditary diseases is important for diagnostics and the study of the disease development pathology. We have analyzed 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 PBMCs of the patient by a non-integrating 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.
About the authors
E. V. Grigor’eva
Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences; Meshalkin National Medical Research Center, Ministry of Health of the Russian Federation; Institute of Chemical Biology and Fundamental Medicine, Siberian Branch of the Russian Academy of Sciences
Author for correspondence.
Email: evlena@bionet.nsc.ru
Russia, 630090, Novosibirsk, prosp. acad. Lavrentieva, 10; Russia, 630055, Novosibirsk, ul. Rechkunovskaya, 15; Russia, 630090, Novosibirsk, prosp. acad. Lavrentieva, 8
L. V. Kovalenko
Khanty-Mansiysk Autonomous Okrug – Ugra “Surgut State University”
Email: evlena@bionet.nsc.ru
Russia, 628403, Surgut, prosp. Lenina, 1
J. A. Rzaev
FSBI Federal Neurosurgical Center
Email: evlena@bionet.nsc.ru
Russia, 630087, Novosibirsk, ul. Nemirovicha-Danchenko, 132/1
E. A. Khabarova
Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences; FSBI Federal Neurosurgical Center
Email: evlena@bionet.nsc.ru
Russia, 630090, Novosibirsk, prosp. acad. Lavrentieva, 10; Russia, 630087, Novosibirsk, ul. Nemirovicha-Danchenko, 132/1
Y. V. Vyatkin
Novosibirsk State University
Email: evlena@bionet.nsc.ru
Russia, 630090, Novosibirsk, ul. Pirogova, 2
J. M. Minina
Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences
Email: evlena@bionet.nsc.ru
Russia, 630090, Novosibirsk, prosp. acad. Lavrentieva, 10
S. P. Medvedev
Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences; Meshalkin National Medical Research Center, Ministry of Health of the Russian Federation; Institute of Chemical Biology and Fundamental Medicine, Siberian Branch of the Russian Academy of Sciences
Email: evlena@bionet.nsc.ru
Russia, 630090, Novosibirsk, prosp. acad. Lavrentieva, 10; Russia, 630055, Novosibirsk, ul. Rechkunovskaya, 15; Russia, 630090, Novosibirsk, prosp. acad. Lavrentieva, 8
A. A. Malakhova
Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences; Meshalkin National Medical Research Center, Ministry of Health of the Russian Federation; Institute of Chemical Biology and Fundamental Medicine, Siberian Branch of the Russian Academy of Sciences
Email: evlena@bionet.nsc.ru
Russia, 630090, Novosibirsk, prosp. acad. Lavrentieva, 10; Russia, 630055, Novosibirsk, ul. Rechkunovskaya, 15; Russia, 630090, Novosibirsk, prosp. acad. Lavrentieva, 8
S. V. Pavlova
Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences; Meshalkin National Medical Research Center, Ministry of Health of the Russian Federation; Institute of Chemical Biology and Fundamental Medicine, Siberian Branch of the Russian Academy of Sciences
Email: evlena@bionet.nsc.ru
Russia, 630090, Novosibirsk, prosp. acad. Lavrentieva, 10; Russia, 630055, Novosibirsk, ul. Rechkunovskaya, 15; Russia, 630090, Novosibirsk, prosp. acad. Lavrentieva, 8
S. M. Zakian
Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences; Meshalkin National Medical Research Center, Ministry of Health of the Russian Federation; Institute of Chemical Biology and Fundamental Medicine, Siberian Branch of the Russian Academy of Sciences
Email: evlena@bionet.nsc.ru
Russia, 630090, Novosibirsk, prosp. acad. Lavrentieva, 10; Russia, 630055, Novosibirsk, ul. Rechkunovskaya, 15; Russia, 630090, Novosibirsk, prosp. acad. Lavrentieva, 8
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