The ATXN1L Knockout SK-HEP-1 Polyclonal Cells product is a CRISPR/Cas9-edited polyclonal population of SK-HEP-1 liver sinusoidal endothelial cells (LSECs) with targeted disruption of the ATXN1L gene. This heterogeneous pool provides a loss-of-function model for studying ATXN1L in transcriptional regulation and endothelial biology.
SK-HEP-1 cells, originally isolated from the ascites of a patient with liver adenocarcinoma, are now characterized as a liver sinusoidal endothelial cell line. They perform specialized functions including blood filtration, high-capacity endocytosis, and modulation of hepatic immunity. Their stable endothelial phenotype in culture makes them a convenient and relevant model for studying liver sinusoidal biology.
ATXN1L is a paralog of ATXN1 that functions as a transcriptional cofactor, interacting with ATXN1 and the repressor Capicua (CIC) to modulate gene expression. Through CIC, it regulates downstream targets such as ETV5 and CCNE1, which are involved in cell growth and development. ATXN1L also participates in RNA processing and protein complex formation. Its activity can modify spinocerebellar ataxia type 1 (SCA1) pathology by influencing ATXN1-mediated neurotoxicity, though upstream regulators remain poorly defined.
In SK-HEP-1 endothelial cells, ATXN1L knockout likely disrupts transcriptional programs controlling endothelial function. Loss of ATXN1L may alter CIC target gene expression, affecting processes like tube formation and migration. This polyclonal knockout model provides a platform to investigate ATXN1L??s role in liver endothelial biology and its potential as a modifier in SCA1, particularly in non-neuronal cell types that contribute to disease progression.
Applications include Western blotting and RT-qPCR for expression analysis, RNA-seq for transcriptome profiling, and co-immunoprecipitation to confirm interactions with CIC. Endothelial functional assays such as tube formation and migration evaluate angiogenic properties, while dual-luciferase reporter assays assess transcriptional repression activity. The model is suitable for drug screening aimed at SCA1 therapeutics. For further inquiries, please contact Ascent Research.
