Establishing a human embryonic stem cell clone with a heterozygous mutation in the DGCR8 gene

DiGeorge Syndrome (DGS) Critical Region 8 (DGCR8) is a primary candidate gene in they DGS. The DGCR8 microprocessor complex subunit an essential cofactor the canonical miRNA biogenesis which involved diverse cellular functions such as cell fate decisions, apoptosis and different signaling pathways. However, role of these processes or development DGS not fully understood. Here we present heterozygous mutant human embryonic stem line (HuES9DGCR8+/−) created by CRISPR/Cas9 system. generated HuES9DGCR8+/− cells maintain normal karyotype, morphology, pluripotency differentiation capacity into all three germ layers.