Familial hypercholesterolemia with cholesteryl ester transfer protein deficiency
Related Experiment Video
Updated: Oct 29, 2026

A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
Published on: September 15, 2018
1Department of Internal Medicine, Hokkaido Central Hospital for Social Health Insurance, Sapporo.
Abstract:
A 21-year-old male was clinically diagnosed with familial hypercholesterolemia (FH) by the manifestations of hypercholesterolemia, tendon xanthoma and family history of premature coronary heart disease. Low density lipoprotein receptor gene was analyzed in attempt to determine a possible point mutation. The normal sequence was partially preserved, and the patient was genetically diagnosed as a heterozygote of FH. In addition, screening for two cholesteryl ester transfer protein (CETP) gene mutations common to Japanese revealed the patient to be a heterozygote of CETP deficiency. A complication of two influential mutations for atherosclerotic ailments was genetically ascertained.
More Related Videos
Related Concept Videos
Cholesterol: Significance and Regulation
Considering cholesterol and...
Pharmacogenomics: Identification of New Drug Targets
Synthesis of Phosphatidylcholine in the ER Membrane
The major components of all eukaryotic cell...
Cholecystitis
Lipid Catabolism
Cardiomyopathy III: Hypertrophic Cardiomyopathy
