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|