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

  • COLLECTION OF PLURIPOTENT STEM CELL LINES
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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.

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Fig. 1.

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ACKNOWLEDGMENTS

Visualization of the results of immunofluorescence staining of cells was carried in the Center of Collective Use of Biological Objects Microscopic Analysis of the Institute of Cytology and Genetics (Siberian Branch, Russian Academy of Sciences) (https://ckp.icgen.ru/ckpmabo/) and supported by the Budget project of Institute of Cytology and Genetics (Siberian Branch, Russian Academy of Sciences) FWNR-2022-0015.

Funding

The work was carried out with the financial support of the Ugra Scientific and Technical Development Fund in accordance with project no. 2022-05-03/2022.

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Authors and Affiliations

  1. Institute of Cytology and Genetics, Siberian Branch, Russian Academy of Sciences, 630090, Novosibirsk, Russia

    A. A. Malakhova, S. V. Pavlova, E. V. Grigor’eva, S. P. Medvedev, J. M. Minina, E. A. Khabarova & S. M. Zakian

  2. Meshalkin National Medical Research Center, Ministry of Health of the Russian Federation, 630055, Novosibirsk, Russia

    A. A. Malakhova, S. V. Pavlova, E. V. Grigor’eva, S. P. Medvedev & S. M. Zakian

  3. Institute of Chemical Biology and Fundamental Medicine, Siberian Branch, Russian Academy of Sciences, 630090, Novosibirsk, Russia

    A. A. Malakhova, S. V. Pavlova, E. V. Grigor’eva, S. P. Medvedev & S. M. Zakian

  4. Novosibirsk State University, 630090, Novosibirsk, Russia

    Y. V. Vyatkin

  5. FSBI Federal Neurosurgical Center, 630087, Novosibirsk, Russia

    E. A. Khabarova & J. A. Rzaev

  6. Khanty-Mansiysk Autonomous Okrug–Ugra Surgut State University, 628403, Surgut, Russia

    L. V. Kovalenko

Authors
  1. A. A. Malakhova
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  2. S. V. Pavlova
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  3. E. V. Grigor’eva
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  4. S. P. Medvedev
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  5. J. M. Minina
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  6. Y. V. Vyatkin
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  7. E. A. Khabarova
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  8. J. A. Rzaev
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  9. L. V. Kovalenko
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  10. S. M. Zakian
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Contributions

A.A. Malakhova, S.V. Pavlova, and E.V. Grigor’eva made an equal contribution to the work, they reprogrammed mononuclear blood cells, and obtained individual iPSCs clones and detailed characteristics of the ICGi023 line-A. S.P. Medvedev performed Sanger sequencing to confirm the presence of polymorphisms in the obtained iPSCs. Yu.M. Minina performed karyotyping of the obtained IPSC line. The analysis of exome sequencing data was performed by Yu.V. Vyatkin. Medical support of the patient and the collection of mononuclear blood cells was carried out by E.A. Khabarova and J.A. Rzaev. A.A. Malakhova, S.V. Pavlova, E.V. Grigor’eva, L.V. Kovalenko, and S.M. Zakian developed the design of the experiment, analyzed the obtained data, and participated in the writing of the article.

Corresponding author

Correspondence to A. A. Malakhova.

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Conflict of interest. The authors declare that they have no conflicts of interest.

Statement of compliance with standards of research involving humans as subjects. The study was approved by the Ethical Commission of the Federal State Budgetary Institution Federal Center of Neurosurgery of the Ministry of Health of the Russian Federation, Novosibirsk, Protocol no. 1 of March 14, 2017. The patient signed a voluntary informed consent.

Additional information

Passport of the pluripotent stem cell line

Translated by E. Tolkunova

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Malakhova, A.A., Pavlova, S.V., Grigor’eva, E.V. et al. An Induced Pluripotent Stem Cell Line (ICGi023-A) Obtained from a Patient with Parkinson’s Disease Associated Polymorphisms in LRRK2 and PINK1 Genes. Russ J Dev Biol 54, 88–95 (2023). https://doi.org/10.1134/S1062360423010071

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  • DOI: https://doi.org/10.1134/S1062360423010071

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