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Induced pluripotent stem cell line ICGi036-A generated by reprogramming peripheral blood mononuclear cells from a patient with familial hypercholesterolemia caused due to compound heterozygous p.Ser177Leu/p.Cys352Arg mutations in LDLR.
Zakharova IS, Shevchenko AI, Tmoyan NA, Elisaphenko EA, Zubkova ES, Sleptcov AA, Nazarenko MS, Ezhov MV, Kukharchuk VV, Parfyonova YV, Zakian SM. Zakharova IS, et al. Among authors: tmoyan na. Stem Cell Res. 2022 Mar;59:102653. doi: 10.1016/j.scr.2022.102653. Epub 2022 Jan 3. Stem Cell Res. 2022. PMID: 34999421 Free article.
Induced pluripotent stem cell line ICGi038-A, obtained by reprogramming peripheral blood mononuclear cells from a patient with familial hypercholesterolemia due to compound heterozygous c.1246C > T/c.940 + 3_940 + 6del mutations in LDLR.
Zakharova IS, Shevchenko AI, Tmoyan NA, Elisaphenko EA, Zubkova ES, Sleptcov AA, Nazarenko MS, Ezhov MV, Kukharchuk VV, Parfyonova YV, Zakian SM. Zakharova IS, et al. Among authors: tmoyan na. Stem Cell Res. 2022 Apr;60:102702. doi: 10.1016/j.scr.2022.102702. Epub 2022 Feb 6. Stem Cell Res. 2022. PMID: 35152178 Free article.
Induced pluripotent stem cell line ICGi037-A, obtained by reprogramming peripheral blood mononuclear cells from a patient with familial hypercholesterolemia due to heterozygous p.Trp443Arg mutations in LDLR.
Zakharova IS, Shevchenko AI, Tmoyan NA, Elisaphenko EA, Kalinin AP, Sleptcov AA, Nazarenko MS, Ezhov MV, Kukharchuk VV, Parfyonova YV, Zakian SM. Zakharova IS, et al. Among authors: tmoyan na. Stem Cell Res. 2022 Apr;60:102703. doi: 10.1016/j.scr.2022.102703. Epub 2022 Feb 6. Stem Cell Res. 2022. PMID: 35152179 Free article.
Calling and Phasing of Single-Nucleotide and Structural Variants of the LDLR Gene Using Oxford Nanopore MinION.
Nazarenko MS, Sleptcov AA, Zarubin AA, Salakhov RR, Shevchenko AI, Tmoyan NA, Elisaphenko EA, Zubkova ES, Zheltysheva NV, Ezhov MV, Kukharchuk VV, Parfyonova YV, Zakian SM, Zakharova IS. Nazarenko MS, et al. Among authors: tmoyan na. Int J Mol Sci. 2023 Feb 24;24(5):4471. doi: 10.3390/ijms24054471. Int J Mol Sci. 2023. PMID: 36901902 Free PMC article.
iPSC-Derived Endothelial Cells Reveal LDLR Dysfunction and Dysregulated Gene Expression Profiles in Familial Hypercholesterolemia.
Zakharova IS, Shevchenko AI, Arssan MA, Sleptcov AA, Nazarenko MS, Zarubin AA, Zheltysheva NV, Shevchenko VA, Tmoyan NA, Saaya SB, Ezhov MV, Kukharchuk VV, Parfyonova YV, Zakian SM. Zakharova IS, et al. Among authors: tmoyan na. Int J Mol Sci. 2024 Jan 5;25(2):689. doi: 10.3390/ijms25020689. Int J Mol Sci. 2024. PMID: 38255763 Free PMC article.