Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

CRISPR gene editing and inducible pluripotent stem cell neuronal disease modelling for rare disease diagnosis: EMHM1 genetic variant analysis in Kleefstra Syndrome

ABSTRACT: CRISPR gene editing and inducible pluripotent stem cell neuronal disease modelling for rare disease diagnosis: EMHM1 genetic variant analysis in Kleefstra Syndrome

PROVIDER: PRJNA739884 | ENA |

REPOSITORIES: ENA

ACCESS DATA

Json Xml

Dataset's files

Source:

			Action	DRS
	SRR14877286.fastq.gz	Fastqsanger.gz
	SRR14877287.fastq.gz	Fastqsanger.gz
	SRR14877288.fastq.gz	Fastqsanger.gz
	SRR14877289.fastq.gz	Fastqsanger.gz
	SRR14877290.fastq.gz	Fastqsanger.gz

Items per page:

1 - 5 of 12

Similar Datasets

CRISPR gene editing and inducible pluripotent stem cell neuronal disease modelling for rare disease diagnosis: EMHM1 genetic variant analysis in Kleefstra Syndrome

Project description:Over 400 million people worldwide are living with a rare disease, with genetic variants determining 80% of cases. Next Generation Sequencing identifies potential disease causative genetic variants, however many of these are classified as variants of uncertain significance (VUS). Each VUS requires functional validation as pathogenic or benign in disease pathology in specialist laboratories creating major delays in patient diagnosis. In this study we test a rapid genetic variant assessment pipeline using an EHMT1 (Euchromatin histone methyltransferase 1; EHMT1 p.Gln1144Ter) genetic variant that is pathogenic for Kleefstra Syndrome. Precise CRISPR homology directed (HDR) gene editing introduced the single nucleotide genetic variant in iPS cells and EHMT1_SNV cell clones were rapidly identified with amplicon sequencing. Induction of neural differentiation and RNA sequencing determined differences in differentiation at the gene and transcription factor level. The applied CRISPR HDR methodology was rapid and reliable for the introduction of SNVs in iPSCs for subsequent neuronal cell differentiation. Key features of Kleefstra Syndrome were identified, with involvement of key transcription factors REST and SP1 in disease mechanisms. This study indicates that precise iPSC gene editing and changes in disease modelling pathways can contribute to disease diagnosis and understanding of mechanisms.

2021-06-23 | GSE178646 | GEO

Skin rare disease transcriptomics

Project description:Global analysis of RNA from 3 rare skin disease patients extracted from queratinocites and 2 healthy controls (analysis done in triplicate)

2019-08-01 | E-MTAB-3513 | biostudies-arrayexpress

Identifying SETBP1 haploinsufficiency molecular pathways to improve patient diagnosis using induced pluripotent stem cells and neural disease modelling.

Project description:Identifying SETBP1 haploinsufficiency molecular pathways to improve patient diagnosis using induced pluripotent stem cells and neural disease modelling.

| PRJNA1093043 | ENA

EHMT1 gene truncation in HEK293 cells recapitulates Kleefstra Syndrome disease phenotype

Project description:Haploinsufficiency of the Euchromatin histone methyltransferase 1 (EHMT1) gene leads to Kleefstra Syndrome, a rare disease characterised by moderate to severe developmental delay/intellectual disability, childhood hypotonia and distinct facial features, comprising microcephaly. This study examines the genetic variant EHMT1_Ter (p.[Tyr1148=];[Tyr1148Leufs*9]) in HEK293 cells.

2020-09-04 | GSE157390 | GEO

Rare disease susceptibility alleles in children with Crohn disease

Project description:Rare disease susceptibility alleles in children with Crohn disease

| PRJNA507828 | ENA

Rare disease susceptibility alleles in children with Crohn disease

Project description:Rare disease susceptibility alleles in children with Crohn disease

| PRJNA507829 | ENA

Molecular Integration in Neurological Diagnosis - Parkinson's Disease

Project description:Molecular Integration in Neurological Diagnosis - Parkinson's Disease

| PRJNA1064228 | ENA

Disease modelling of core pre-mRNA splicing factor haploinsufficiency

Project description:Disease modelling of core pre-mRNA splicing factor haploinsufficiency

| PRJNA532422 | ENA

Modelling complex cardiovascular disease in mature organoid model

Project description:Cardiac maturation is an important developmental phase where there are profound biological and functional changes after birth in mammals. Herein, we use our profiling of human heart maturation in vivo to identify key drivers of maturation in our human cardiac organoid (hCO) model. In this dataset, we exemplified the applicability of our mature organoids in modelling cardiovascular disease. Pathogenesis of Desmoplakin (DSP) cardiomyopathies are driven by complex cellular interplay and changes in excitation-contraction coupling. A patient (MCHTB11), was screened against a 202 cardiac gene panel for clinically-relevant rare DNA variants (frequency < 0.04%). A homozygous 2 bp deletion was identified in the DSP gene, and recapitulated in our hCOs utilising CRISPR. In this screen, we also utilised INCB054329, a bromodomain extra-terminal inhibitor, to suppress diastolic dysfunction induced by the DSP mutant. In this dataset, we evaluate the proteomic remodelling induced by DSP-mutants (DSP) versus recovered mutants (CTRL), with and without INCB (n=3-4 for each group).

2025-04-17 | PXD054791 | Pride

Rare variation Micro-array raw data

Project description:A rare chromosome 20 with additional G-positive band was found during prenatal diagnosis. To identified the rare chromosome 20, standard cytogenetic and molecular cytogenetic analysis of the patients was performed. Array comparative genomic hybridization (aCGH) were performed to exclude genomic imbalance.

2016-06-27 | E-MTAB-4755 | biostudies-arrayexpress

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

Tweets

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data