To study the effects of disruption of cohesin on gene expression in human cells we have utilized lymphoblastoid cell lines (LCLs) from individuals with CdLS that harbor known heterozygous mutations in the cohesin regulator NIPBL and cohesin structural component SMC1A and applied a genome-wide approach to analyze gene transcription and cohesin binding. Here, NIPBL is linked to Cornelia de Lange syndrome.