- PII
- 10.31857/S0475145023010123-1
- DOI
- 10.31857/S0475145023010123
- Publication type
- Status
- Published
- Authors
- Volume/ Edition
- Volume 54 / Issue number 1
- Pages
- 114-122
- Abstract
- Parkinson’s disease is a multifactorial disease; both genetic predisposition (5% of all cases), environmental factors and age-related changes in the brain and other body systems contribute to its etiology. For the diagnosis and study of the pathology of the development of the disease, it is important to search for new polymorphisms associated with hereditary forms of the disease. We analyzed the clinical exome of a 55-year-old patient with Parkinson’s disease and identified a single nucleotide polymorphism in the GLUD2 gene (c.1492T>G). This genetic variant is pathogenic according to the ClinVar database, but the mechanism of pathogenesis is still poorly understood. In addition, there are currently no relevant models based on human cells, which is of great interest. We generated induced pluripotent stem cells (iPSCs) from patient peripheral blood mononuclear cells using non-integrating episomal vectors expressing OCT4, KLF4, L‑MYC, SOX2, LIN28, and p53 shRNA. The obtained iPSC lines (ICGi044-B and ICGi044-C) demonstrate typical ESC-like morphology, normal karyotype (46,XY), express pluripotency markers (OCT4, SOX2, NANOG, SSEA4, TRA-1-60) and are able to give derivatives of three germ layers. The iPSC lines ICGi044-B and ICGi044-C, as well as their neural derivatives, represent an unique in vitro cell model for studying the pathogenetic mechanisms of the development of Parkinson’s disease associated with the c.1492T>G mutation in the GLUD2 gene.
- Keywords
- репрограммирование индуцированные плюрипотентные стволовые клетки болезнь Паркинсона полиморфизмы
- Date of publication
- 19.09.2025
- Year of publication
- 2025
- Number of purchasers
- 0
- Views
- 19
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