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.
Stem cell research - 1 Apr 2022
Zakharova Irina S, Shevchenko Alexander I, Tmoyan Narek A, Elisaphenko Eugeny A, Zubkova Ekaterina S, Sleptcov Aleksei A, Nazarenko Maria S, Ezhov Marat V, Kukharchuk Valery V, Parfyonova Yelena V, Zakian Suren M
Abstract excerpt
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...
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