Characterization of missense mutations in the tetratricopeptide region of O-GlcNAc transferase found in patients with X-linked intellectual disability

Dfferential transcriptomics analysis of RUES-1 human embryonic stem cells edited using Crispr/Cas9 to contain four mutations in OGT found in certain patients with X-linked intellectual disability reveals changes in the gene expression profile associated with ectoderm and mesoderm development in all four mutant cell lines compared to the wild type control. The steady state global gene expression profiles of four mutant cell lines are compared with that of a control wild type cell line using Illumina mRNA-sequencing.