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Generation of an Induced Pluripotent Stem Cell Line ICGi046-A of a Patient Carrying Pathogenic p.Ser259Thr Variant in RAF1 Associated with RASopathy

  • COLLECTION OF PLURIPOTENT STEM CELL LINES
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Abstract

Technology of generation of induced pluripotent stem cells followed by differentiation into relevant cell type allows obtaining cell models for studying various inherited human diseases. In the study, an induced pluripotent stem cell (iPSC) line (ICGi046-A) was generated as a result of reprogramming of mononuclear cells of a RASopathy patient carrying pathogenic c.775T>A (p.Ser259Thr) variant in RAF1 to the pluripotent state. The ICGi046-A line demonstrated morphology characteristic of human pluripotent cells, normal karyotype (46,XY), expression of pluripotency markers (OCT4, NANOG, SOX2, TRA-1-60), and capacity to give rise to derivatives of three germ layers during spontaneous differentiation. The iPSC line can be used for studying molecular mechanisms of RASopathies.

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REFERENCES

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ACKNOWLEDGMENTS

The analysis of karyotype was carried out using the resources of the Common Use Center for Microscopy of Biologic Objects, Siberian Branch, Russian Academy of Sciences, supported by the Budget Project of the Institute of Cytology and Genetics, Siberian Branch, Russian Academy of Sciences, FWNR-2022-0015. Equipment of the Meshalkin National Medical Research Center of the Ministry of Health of the Russian Federation was used for the analysis of immunofluorescence staining.

Funding

The research was carried out with the financial support of the Russian Science Foundation (project no. 22-15-00271).

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Authors and Affiliations

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

    E. V. Dementyeva, E. S. Klimenko, J. M. Minina & S. M. Zakian

  2. Almazov National Medical Research Center, 197341, St. Petersburg, Russia

    E. S. Klimenko & A. A. Kostareva

  3. Meshalkin National Medical Research Center, 630055, Novosibirsk, Russia

    S. M. Zakian

Authors
  1. E. V. Dementyeva
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  2. E. S. Klimenko
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  3. J. M. Minina
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  4. S. M. Zakian
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  5. A. A. Kostareva
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Contributions

E.V. Dementyeva, A.A. Kostareva, and S.M. Zakian developed the design of the experiment, analyzed the obtained data, and participated in the writing of the article. E.V. Dementyeva and E.S. Klimenko performed reprogramming of mononuclear cells and characterization of the iPSC line. J.M. Minina analyzed the karyotype of the iPSC line.

Corresponding author

Correspondence to E. V. Dementyeva.

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CONFLICT OF INTEREST

The authors of this work declare that they have no conflicts of interest.

ETHICS APPROVAL AND CONSENT TO PARTICIPATE

The study was approved by the Ethics Committee of the Almazov National Medical Research Center of the Ministry of Health of the Russian Federation, protocol no. 01-22-01C dated January 17, 2022. The patient gave voluntary informed consent.

All applicable international, national, and/or institutional principles for the use of animals in experiments and conditions for their care have been observed for obtaining feeder.

Additional information

Passport of the pluripotent stem cell line

Translated by A. S. Ermakov

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Dementyeva, E.V., Klimenko, E.S., Minina, J.M. et al. Generation of an Induced Pluripotent Stem Cell Line ICGi046-A of a Patient Carrying Pathogenic p.Ser259Thr Variant in RAF1 Associated with RASopathy. Russ J Dev Biol 54 (Suppl 1), S75–S81 (2023). https://doi.org/10.1134/S1062360423070032

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  • DOI: https://doi.org/10.1134/S1062360423070032

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