| Autor: |
Irina S. Zakharova, Alexander I. Shevchenko, Narek A. Tmoyan, Eugeny A. Elisaphenko, Alexander P. Kalinin, Aleksei A. Sleptcov, Maria S. Nazarenko, Marat V. Ezhov, Valery V. Kukharchuk, Yelena V. Parfyonova, Suren M. Zakian |
| Jazyk: |
angličtina |
| Rok vydání: |
2022 |
| Předmět: |
|
| Zdroj: |
Stem Cell Research, Vol 60, Iss, Pp 102703-(2022) |
| ISSN: |
1873-5061 |
| Popis: |
Familial hypercholesterolemia (FH) is an autosomal dominant disorder increasing premature cardiovascular diseases risk due to atherosclerosis. Pathogenic mutations in the LDLR gene cause most FH cases. Available treatments are effective not for all LDLR mutations. Testing drugs on FH cell models help develop new efficient treatments. We obtained an iPSC line from peripheral blood mononuclear cells of the patient with heterozygous p.Trp443Arg LDLR mutation. The iPSCs with confirmed patient-specific mutations express pluripotency markers, spontaneously differentiate into three germ layers and demonstrate normal karyotype. Patient-specific iPSCs-derived hepatocyte-like and endothelial cells are promising to develop new targeted therapies for FH. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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