Why the study?
Hepatocyte-like and endothelial cells derived from individual iPSCs provide a model for developing new therapeutic approaches for familial hypercholesterolemia.
The generation of this patient-specific iPSC line provides a valuable in vitro model for studying familial hypercholesterolemia and developing new therapeutic approaches.
Patient-specific iPSC line for compound heterozygous LDLR mutations enables preclinical modeling; leaves open clinical translation.
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.
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Захарова et al. (2022) studied this question.
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