- PII
- 10.31857/S0475145023010068-1
- DOI
- 10.31857/S0475145023010068
- Publication type
- Status
- Published
- Authors
- Volume/ Edition
- Volume 54 / Issue number 1
- Pages
- 87-95
- 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.
- Keywords
- болезнь Паркинсона индуцированные плюрипотентные стволовые клетки полиморфизмы репрограммирование
- Date of publication
- 18.09.2025
- Year of publication
- 2025
- Number of purchasers
- 0
- Views
- 17
References
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