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 is an essential cofactor in the canonical miRNA biogenesis which is involved in diverse cellular functions such as cell fate decisions, apoptosis and different signaling pathways. However, the role of DGCR8 in these processes or development of DGS is not fully understood. Here we present a heterozygous DGCR8 mutant human embryonic stem cell line (HuES9^DGCR8+/-) created by the CRISPR/Cas9 system. The generated HuES9^DGCR8+/- cells maintain normal karyotype, morphology, pluripotency and differentiation capacity into all three germ layers.