GSE211811
Bi-allelic SNAPC4 variants lead to altered global splicing and a neurodevelopmental disorder
To investigate the transcriptomic effects of deleterious SNAPC4 variants, patient-derived cells and SNAPC4-deficient HeLa cells were used to generate RNA-Seq data. Overall design: Four comparisons were made: 1) PolyA-selected data from patient-derived fibroblasts against control fibroblasts,  2) PolyA-selected data from a parental HeLa-Cas9 line against SNAPC4-deficient HeLa cells, 3) small RNA-selected data from patient-derived fibroblasts against control fibroblasts, and  4) small RNA-selected data from a parental HeLa-Cas9 line against SNAPC4-deficient HeLa cells