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


Familial hypercholesterolemia (FH) is a monogenic disease, leading to atherosclerosis due to a high level of low-density lipoprotein cholesterol. Most cases of the disease are based on pathological variants in the LDLR gene. Hepatocyte-like and endothelial cells derived from individual iPSCs are a good model for developing new approaches to therapy. We obtained an iPSC line from peripheral blood mononuclear cells of the patient with compound heterozygous p.Ser177Leu/p.Cys352Arg mutation in LDLR using non-integrating vectors. The iPSCs with a confirmed patient-specific mutation demonstrate pluripotency markers, normal karyotype, and the ability to differentiate into derivatives of three germ layers. Copyright © 2022 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Zakharova IS, Shevchenko AI, Tmoyan NA, Elisaphenko EA, Zubkova ES, Sleptcov AA, Nazarenko MS, Ezhov MV, Kukharchuk VV, Parfyonova YV, Zakian SM
Journal Stem cell research
Publication Date 2022 Jan 3;59:102653
PubMed 34999421
DOI 10.1016/j.scr.2022.102653

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