Perturb-seq Using ABE8e Base Editing to Functionally Characterize a Subset of Blood Pressure- and CAD-Associated Genetic Variants in TeloHAEC Cells v1

Le résumé fourni par la source

This study follows a previously developed pooled Adenine Base Editing (ABE) screen that assessed the functional impact of 1,271 genetic variants associated with blood pressure (BP) traits and coronary artery disease (CAD) in human endothelial cells (TeloHAEC). That screen, based on variants identified through genome-wide association studies (GWAS) and fine-mapped using UK Biobank data, enabled high-throughput functional annotation of disease-linked loci. Building upon this, the current protocol describes a Perturb-seq approach to characterize a selected subset of these variants at single-cell resolution. This method combines ABE8e-mediated base editing with single-cell RNA sequencing of CRISPR perturbations to elucidate the transcriptomic consequences of specific genetic edits in endothelial cells.

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