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

Dóra Reé; Adrienn Borsy; Ábel Fóthi; Tamás I Orbán; György Várady; Zsuzsa Erdei; Balázs Sarkadi; János Réthelyi; Nóra Varga; Ágota Apáti

doi:10.1016/j.scr.2020.102134

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

Stem Cell Res. 2020 Dec 22:50:102134. doi: 10.1016/j.scr.2020.102134. Online ahead of print.

Authors

Affiliations

¹ Institute of Enzymology, Research Centre for Natural Sciences, Budapest, Hungary.
² Department of Psychiatry and Psychotherapy, Semmelweis University, Budapest, Hungary; Molecular Psychiatry Research Group, National Brain Research Program (NAP), Hungarian Academy of Sciences and Semmelweis University, Budapest, Hungary.
³ Institute of Enzymology, Research Centre for Natural Sciences, Budapest, Hungary. Electronic address: apati.agota@ttk.mta.hu.

PMID: 33360445
DOI: 10.1016/j.scr.2020.102134

Abstract

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.