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DGCR8 haploinsufficiency leads to primate-specific RNA dysregulation and pluripotency defects

GSE209770 Homo sapiens Expression profiling by high throughput sequencing 9 samples Submitted 2025/02/14 Platform GPL28038
Summary
The 22q11.2 deletion syndrome (22qDS) is caused by a microdeletion in one of the chromosomes 22, comprising around 40 genes and including DGCR8, an essential gene for miRNA biogenesis and transposable elements control. Most of the clinical manifestations of 22qDS have their origin during embryonic development, but the contribution of human DGCR8 hemizygosity to the disease is unknown. To clarify the overall effect of DGCR8 in the context of 22qDS, we have generated two human embryonic models of DGCR8 +/-.In this dataset we use total RNA-seq to study the effect of DGCR8 heterozygosity on steady state RNA levels in human embryonic stem cells.
Published in
DGCR8 haploinsufficiency leads to primate-specific RNA dysregulation and pluripotency defects
Colomer-Boronat A, Knol LI, Peris G et al. · Nucleic acids research 2025 · PMID 40138719 · doi:10.1093/nar/gkaf197
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Also filed as BioProject PRJNA862387 and SRA study SRP388169. Searching any of these in the dataset finder brings you back here.

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