Skip to main content
SpringerLink
Log in

Generation of an Induced Pluripotent Stem Cell Line, ICGi042-A, by Reprogramming Peripheral Blood Mononuclear Cells from a Parkinson’s Disease Patient with c.1000G>A Mutation in the LRRK2 Gene

  • COLLECTION OF PLURIPOTENT STEM CELL LINES
  • Published:
Russian Journal of Developmental Biology Aims and scope Submit manuscript

Abstract

The search for new polymorphisms associated with hereditary diseases is important for diagnostics and the study of the disease’s development pathology. The authors have analyzed a 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 peripheral blood mononuclear cells (PBMCs) of the patient by nonintegrating 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.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1.

REFERENCES

  1. Choppa, P.C., Vojdani, A., Tagle, C., et al., Multiplex PCR for the detection of Mycoplasma fermentans, M. hominis and M. penetrans in cell cultures and blood samples of patients with chronic fatigue syndrome, Mol. Cell Probes, 1998, vol. 12, no. 5, pp. 301–308.

    Article  CAS  PubMed  Google Scholar 

  2. Cowan, C.A., Klimanskaya, I., McMahon, J., et al., Derivation of embryonic stem-cell lines from human blastocysts, N. Engl. J. Med., 2004, vol. 350, no. 13, pp. 1353–1356.

    Article  CAS  PubMed  Google Scholar 

  3. Grigor’eva, E.V., Malankhanova, T.B., Surumbayeva, A., et al., Generation of GABAergic striatal neurons by a novel iPSC differentiation protocol enabling scalability and cryopreservation of progenitor cells, Cytotechnology, 2020, vol. 72, no. 5, pp. 649–663.

    Article  PubMed  PubMed Central  Google Scholar 

  4. Grigor’eva, E.V., Kopytova, A.E., Yarkova, E.S., et al., Biochemical characteristics of iPSC-derived dopaminergic neurons from N370S GBA variant carriers with and without Parkinson’s disease, Int. J. Mol. Sci., 2023, vol. 24, no. 5, 4437.

    Article  PubMed  PubMed Central  Google Scholar 

  5. Okita, K., Yamakawa, T., Matsumura, Y., et al., An efficient nonviral method to generate integration-free human-induced pluripotent stem cells from cord blood and peripheral blood cells, Stem Cells, 2013, vol. 31, no. 3, pp. 458–466.

    Article  CAS  PubMed  Google Scholar 

Download references

ACKNOWLEDGMENTS

Immunofluorescence imaging was performed using the resources of the Center for Collective Use of Microscopic Analysis of Biological Objects 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 the Institute of Cytology and Genetics, Siberian Branch, Russian Academy of Sciences, FWNR-2022-0015.

Funding

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

Author information

Authors and Affiliations

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

    E. V. Grigor’eva, S. V. Pavlova, A. A. Malakhova, 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

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

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

    E. V. Grigor’eva, S. V. Pavlova, A. A. Malakhova, 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. E. V. Grigor’eva
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. S. V. Pavlova
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. A. A. Malakhova
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. S. P. Medvedev
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. J. M. Minina
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Y. V. Vyatkin
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. E. A. Khabarova
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. J. A. Rzaev
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. L. V. Kovalenko
    View author publications

    You can also search for this author in PubMed Google Scholar

  10. S. M. Zakian
    View author publications

    You can also search for this author in PubMed Google Scholar

Contributions

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

Corresponding author

Correspondence to E. V. Grigor’eva.

Ethics declarations

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 was provided with all the information about this study and signed an informed consent and an information sheet with his own hand.

Additional information

Passport of the pluripotent stem cell line

Translated by E. Tolkunova

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Grigor’eva, E.V., Pavlova, S.V., Malakhova, A.A. et al. Generation of an Induced Pluripotent Stem Cell Line, ICGi042-A, by Reprogramming Peripheral Blood Mononuclear Cells from a Parkinson’s Disease Patient with c.1000G>A Mutation in the LRRK2 Gene. Russ J Dev Biol 54, 80–87 (2023). https://doi.org/10.1134/S106236042301006X

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1134/S106236042301006X

Keywords:

Search

Navigation