To see if the DDR defect that we have observed in the presence of the BRD4Y430C would also be apparent in cells carrying other CdLS mutations, we utilised two lymphoblastoid cell lines (LCL) previously derived from CdLS patients with heterozygous mutations in NIPBL, Ile1206del36 and Arg2298His37. The gene discussed is NIPBL; the disease is Cornelia de Lange syndrome.