Pluripotent stem cell disease modeling of GATA6 haploinsufficiency in human pancreatic development

To better understand molecular mechanisms of human pancreatic development associated with GATA6 haploinsufficiency, we performed RNA-seq analysis to characterize the biological processes affected by GATA6 heterozygous mutation. We found majority of top downregulated transcription factors are known to play key roles in pancreatic development and top downregulated genes were enriched with factors involved in developmental processes, with the pancreas being the top affected lineage. Examination of two wild-type lines and two GATA6-/+ lines at the PP2 stage.