Modified penetrance of coding variants by cis-regulatory variation contributes to disease risk

Edited mendelian disease SNP rs199643834 responsible for Birt-Hogg-Dubé Syndrome into 293T cells using CRISPR/Cas9 Overall design: Human 293T cells were edited using CRISPR/Cas9 and a homologus template containing the desired SNP. Monoclonal lines were generated and genotyped.本研究利用CRISPR/Cas9系统，将与伯-霍-杜布综合征（Birt-Hogg-Dubé Syndrome）致病相关的孟德尔遗传病单核苷酸多态性（Single Nucleotide Polymorphism, SNP）rs199643834编辑导入293T细胞。实验整体设计：本研究采用CRISPR/Cas9系统及携带目标单核苷酸多态性的同源模板对人源293T细胞进行基因编辑，随后构建单克隆细胞株并完成基因型鉴定。