An O-GlcNAc Transferase Pathogenic Variant Linked to Intellectual Disability Affects Pluripotent Stem Cell Self-Renewal

Colonies formed by mouse embryonic stem cells carrying OGTC921Y showed decreased levels of protein O-GlcNAcylation accompanied by decreased levels of Oct4, Sox2, and extracellular alkaline phosphatase, implying reduced self-renewal capacity.