National Brain Research Program(2017-1.2.1-NKP-2017-00002)
(Higher Education Institutional Excellence Programme of the Ministry of Human Capacities
in Hungary, within the framework of the Neurology thematic programme of the Semmelweis
University)
(OTKA K128369) Támogató: Hungarian National Research, Development and Innovation Office
Szakterületek:
Biokémia és molekuláris biológia
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.
