Abstract 1722 Loss of the Mendelian disease gene BICRA alters the developmental potential of human iPSCs

Loss-of-function mutations in the gene BICRA cause a syndromic neurodevelopmental disorder characterized by cognitive impairment, developmental delay, and dysmorphic facial features. BICRA encodes a subunit of a non-canonical form of the BRG1/BRM-Associated Factor (BAF) chromatin remodeling complex. Although BICRA is broadly expressed across tissue types and developmental stages, the molecular mechanisms that link BICRA mutations to developmental disorders remain poorly understood. Previous studies have shown that loss of BICRA increases the efficiency of reprogramming somatic cells to induced pluripotent stem cells (iPSCs), suggesting that BICRA may be involved in basic mechanisms of developmental potential.