Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

T cell transriptome in chromosome 22q11.2 deletion syndrome

ABSTRACT: T cell transriptome in chromosome 22q11.2 deletion syndrome

PROVIDER: PRJNA766425 | ENA |

REPOSITORIES: ENA

ACCESS DATA

Json Xml

Dataset's files

Source:

			Action	DRS
	SRR16077658_1.fastq.gz	Fastqsanger.gz
	SRR16077658_2.fastq.gz	Fastqsanger.gz
	SRR16077659_1.fastq.gz	Fastqsanger.gz
	SRR16077659_2.fastq.gz	Fastqsanger.gz
	SRR16077660_1.fastq.gz	Fastqsanger.gz

Items per page:

1 - 5 of 38

Similar Datasets

22q11.2 deletion syndrome human cortical organoids

Project description:22q11.2 deletion syndrome human cortical organoids

| PRJNA595613 | ENA

Neuronal Defects in a Human Cellular Model of 22q11.2 Deletion Syndrome

Project description:22q11.2 deletion syndrome (22q11DS) is a common cause of developmental neuropsychiatric disorders, including psychosis, autism and epilepsy. This highly penetrant genetic syndrome provides a unique opportunity to mitigate the challenges raised by the heterogeneity of complex mental disorders and to identify specific neuronal phenotypes. Here, we generated induced pluripotent stem cells from subjects carrying a 3 Mb deletion at the 22q11.2 locus and from controls and differentiated these cells in vitro into three-dimensional organoid resembling the developing cerebral cortex. We performed single-cell RNA-sequencing to establish the reliability and reproducibility of cortical organoid differentiation in 22q11DS.

2020-07-08 | GSE145122 | GEO

22q11.2 deletion syndrome human cortical organoids

Project description:We derived iPSC from individuals carrying a 22q11.2 deletion and controls and differentiated them into 3D cortical organoids.

2020-07-08 | GSE142041 | GEO

T cell transriptome in chromosome 22q11.2 deletion syndrome

Project description:We performed transcriptome analysis via RNA sequencing of T cells isolated from participants with and without 22qDS and T cells of 22qDS participants with low or normal number of T cells.

2022-06-23 | GSE184790 | GEO

A CRISPR-engineered Isogenic Model Reveals Altered Neuronal Phenotypes of the 22q11.2 A-B Syndromic Deletion

Project description:The 22q11.2 deletion syndrome (22q11.2DS) is the most common copy number variant (CNV)-associated syndrome, leading to congenital and neuropsychiatric anomalies. Patient-derived, induced pluripotent stem cell (iPS) models have provided important insight into the mechanisms of phenotypic features of this condition. However, patient-derived iPSC models may harbor underlying genetic heterogeneity that can confound analysis of pathogenic CNV effects. Furthermore, the ~1.5 Mb “A-B” deletion at this locus is inherited at higher frequency than the more common ~2.7 Mb “A-D” deletion, but remains under-studied due to lack of relevant models. To address these issues, here we leveraged a CRISPR-based strategy in Cas9-expressing iPS cells to engineer novel isogenic models of the 22q11.2 “A-B” deletion. After in vitro differentiation to excitatory neurons, integrated transcriptomic and cell surface proteomics identified deletion-associated alterations in surface adhesion markers. Furthermore, implantation of iPS-derived neuronal progenitor cells into the cortex of neonatal mice found decreased proliferation and accelerated neuronal maturation within a relevant microenvironment. Taken together, our results suggest potential pathogenic mechanisms of the 22q11.2 “A-B” deletion in driving neuronal and neurodevelopmental phenotypes. We further propose that the isogenic models generated here will provide a unique resource to study this less-common variant of the 22q11.2 microdeletion syndrome.

2023-05-11 | PXD032075 | Pride

Neuronal Defects in a Human Cellular Model of 22q11.2 Deletion Syndrome

Project description:Neuronal Defects in a Human Cellular Model of 22q11.2 Deletion Syndrome

| PRJNA606070 | ENA

Tbx1 haploinsufficiency induces bone-to-cerebellar deformity in 22q11.2 deletion syndrome

Project description:Tbx1 haploinsufficiency induces bone-to-cerebellar deformity in 22q11.2 deletion syndrome

| PRJNA1068192 | ENA

A CRISPR-engineered Isogenic Model Reveals Altered Neuronal Phenotypes of the 22q11.2 A-B Syndromic Deletion

Project description:The 22q11.2 deletion syndrome (22q11.2DS) is the most common copy number variant (CNV)-associated syndrome, leading to congenital, cognitive, and neuropsychiatric anomalies in patients. The clinical presentation of the disease phenotypes is variable, posing significant challenges for prognosis of inheritance risk and clinical outcomes for the CNV carriers. ~85% of patients and almost all available human-centered models of this condition reflect the ~2.7 Mb “A-D” deletion at this locus. Leveraging a CRISPR/Cas9-based engineering strategy and induced pluripotent stems cells, we generated novel isogenic models for the smaller, commonly inherited 1.5 Mb “A-B” deletion found in ~5-10% of 22q11.2DS patients. The bulk RNA-seq data included here reflects paired-end 100 bp sequencing of iPSC-derived neuronal progenitor cells and excitatory neurons. These data reflect three independent clones either carrying the designed 22q11.2 deletion or control comparators (2 clones nucleofected with same sgRNA but with no deletion generated; 1 clone derived from the parental Cas9-expressing iPSC line). We anticipate that these novel, isogenic models will carry significant utility for the study of 22q11.2 deletion syndrome.

2022-05-02 | GSE200225 | GEO

Whole Exome Sequence of 184 Individuals with 22q11.2 Deletion Syndrome

Project description:<p>Our goal is to find genetic modifiers of major phenotypes in patients with 22q11.2 deletion syndrome, also known as DiGeorge syndrome or velo-cardio-facial syndrome. Whole exome sequencing was performed as part of a contract to the NHLBI, Resequencing and Genotyping Service. We have obtained cardiac phenotype information from the de-identified subjects enrolled in the study, either by echocardiography report or medical doctor report. All of the subjects have a 3 million base pair 22q11.2 deletion flanked by low copy repeats, LCR22, A-D.</p>

| phs000987 | dbGaP

Identification of modifiers of 22q11.2 deletion syndrome in whole genome sequence – CIDR

Project description:Identification of modifiers of 22q11.2 deletion syndrome in whole genome sequence – CIDR

| PRJNA750164 | ENA