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.
Stem cell research - 1 Apr 2022
Zakharova Irina S, Shevchenko Alexander I, Tmoyan Narek A, Elisaphenko Eugeny A, Kalinin Alexander P, Sleptcov Aleksei A, Nazarenko Maria S, Ezhov Marat V, Kukharchuk Valery V, Parfyonova Yelena V, Zakian Suren M
Abstract excerpt
Familial hypercholesterolemia (FH) is an autosomal dominant disorder increasing premature cardiovascular diseases risk due to atherosclerosis. Pathogenic mutations in the LDLR gene cause most FH cases. Available treatments are effective not for all LDLR mutations. Testing drugs on FH cell models help develop new efficient treatments. We obtained an iPSC line from peripheral blood mononuclear cells of the patient...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.