GSE116061
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.