Cockayne syndrome (CSB) fibroblasts. Homo sapiens

Cockayne syndrome (CS) is an inherited neurodevelopmental disorder with progeroid features. Although the genes responsible for CS have been implicated in a variety of DNA repair- and transcription-related pathways, the nature of the molecular defect in CS remains mysterious. We sought to define this defect by expression analysis of cells lacking functional CSB, a SWI/SNF-like ATPase that is responsible for most CS cases. Keywords: primary disease rescue Overall design: Primary Cockayne fibroblasts (GM00739B) were immortalized with hTERT and rescued with expression of wt CSB cDNA (CSB-wt), ATPase mutant (K538R) CSB (CSB-mut), or eGFP as a negative control (CSB-null). Biological replicates represent independent RNA isolation and target synthesis from a cell line; three were performed for CSB-wt and CSB-null, and two for CSB-mut.