DefiniGEN provide disease modelled familial hypercholesterolemia hepatocytes which are highly functional CRISPR gene-edited human hepatocytes. Familial hypercholesterolemia (FH) is an autosomal disorder of lipoprotein metabolism caused mainly by mutations in the low-density lipoprotein receptor (LDLR) gene. These cells can offer disease modelling and drug discovery researchers unprecedented tool for elucidating the underlying mechanisms of this disease.
Highly standardized cell product containing >98% human hepatocyte cells with consistent performance and biologically relevant data
Disease circuit verified mutation in the LDLR gene E101K results in significantly impaired LDL uptake in the cells
|Product ID||Def-HEP FH|
|Cell number||4-6 million cells|
|Genetic background||Familial Hypercholesterolemia|
|Pricing||Request a quote|
Genetic validation and cell viability
Def-HEP FH cells have been validated and verified for the E101K genetic mutation in the LDLR gene. Typical viabilities of the thawed hepatocytes are >70% upon receipt.
Disease circuit verification
The in vivo functional implications of LDL receptor deficiency are conserved in our model, as shown by immunostaining and FACS analysis demonstrating that Def-HEP FH iPSC hepatocytes have an impaired ability to incorporate LDL receptor-specific binding of Dil-LDL is followed by internalization of the bound complex and lysosomal hydrolysis of the ligand. Increase in the fluorescence intensity per cell is hence used as a measure of Dil-LDL uptake and, implicitly, as an indication of LDL-R presence. These results demonstrate that CRISPR generated disease-specific human iPSC can successfully be used to model FH.
LDL receptor analysis
Def-HEP FH cells demonstrate an impaired ability to take up LDL cholesterol relative to the WT isogenic control.