| Autor: |
Irina S. Zakharova, Alexander I. Shevchenko, Narek A. Tmoyan, Eugeny A. Elisaphenko, Ekaterina S. Zubkova, Aleksei A. Sleptcov, Maria S. Nazarenko, Marat V. Ezhov, Valery V. Kukharchuk, Yelena V. Parfyonova, Suren M. Zakian |
| Jazyk: |
angličtina |
| Rok vydání: |
2022 |
| Předmět: |
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| Zdroj: |
Stem Cell Research, Vol 60, Iss , Pp 102702- (2022) |
| Druh dokumentu: |
article |
| ISSN: |
1873-5061 |
| DOI: |
10.1016/j.scr.2022.102702 |
| Popis: |
The development of cellular models for familial hypercholesterolemia (FH) is an important direction for creating new approaches to atherosclerosis treatment. Pathogenic mutations in the LDLR gene are the main FH source. We generated an iPSC line from peripheral blood mononuclear cells of the patient with compound heterozygous c.1246C > T/c.940 + 3_940 + 6del LDLR mutation. The resulting iPSC line with confirmed patient-specific mutations maintains a normal karyotype and a typical undifferentiated state, including morphology, pluripotent gene expression, and in vitro differentiation potential. This iPSC line can be further differentiated toward relevant cells to better understand FH pathogenesis. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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