Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Modelling of Red Blood Cell Trait GWAS Variants in HUDEP-2 Cells (RNA-seq)

ABSTRACT: Genome Wides Association Studies (GWAS) have identified tens of thousands of associations between human genetic variation and common disease. Despite the abundance of GWAS associations, functional identification and characterization of causative variants and effector genes remains a challenging prospect. Human erythropoiesis provides a highly tractable model system for the development of tools for GWAS analysis. Using the Human Umbilical Derived Erythroid Progenitor 2 (HUDEP-2) cell line we have modelled the effects of two variants associated with red blood cell traits using CRISPR/Cas9 facilitated HDR editing.

ORGANISM(S): Homo sapiens

PROVIDER: GSE125714 | GEO | 2023/01/21

REPOSITORIES: GEO

ACCESS DATA

Json Xml

Dataset's files

Source:

			Action	DRS
		Other

Items per page:

1 - 1 of 1

Similar Datasets

Modelling of Red Blood Cell Trait GWAS Variants in HUDEP-2 Cells (ChIP-seq)

2023-01-21 | GSE125713 | GEO

Modelling of Red Blood Cell Trait GWAS Variants in HUDEP-2 Cells (ATAC-seq)

2023-01-21 | GSE125712 | GEO

Characterization of human erythropoiesis using ex vivo differentiation of CD34 HSC (ATAC-seq)

Project description:Genome Wides Association Studies (GWAS) have identified tens of thousands of associations between human genetic variation and common disease. Despite the abundance of GWAS associations, functional identification and characterization of causative variants and effector genes remains a challenging prospect. Human erythropoiesis provides a highly tractable model system for the development of tools for GWAS analysis. We have developed a three-phase protocol for differentiation of peripheral CD34+ Haematopoietic Stem Cells (HSC) into mature enucleating erythrocytes. This protocol has been characterized for it’s the changes observed morphologically, immunologically (by FACS) and epigenetically (by ATAC-seq, ChIP-seq, and RNA-seq). We have used this protocol to study the effects of common GWAS variants affecting red blood cell traits, and more severe mutations causing Type-1 Congenital Dyserythropoietic Anemia (CDA-I).

2021-05-28 | GSE125922 | GEO

Characterization of human erythropoiesis using ex vivo differentiation of CD34 HSC (RNA-seq)

2022-06-22 | GSE125924 | GEO

Characterization of human erythropoiesis using ex vivo differentiation of CD34 HSC (NG Capture-C)

2023-01-21 | GSE125925 | GEO

Characterization of human erythropoiesis using ex vivo differentiation of CD34 HSC (ChIP-seq)

2023-01-21 | GSE125923 | GEO

High resolution chromosome conformation capture from gene promoters at COVID-19, T1D, AS and RBC GWAS loci

Project description:Genome Wides Association Studies (GWAS) have identified tens of thousands of associations between human genetic variation and common disease. The majority of causative variants lie in regulatory elements that are located some distance from their target genes. High resolution chromosome conformation capture (3C) has proven useful for identifying enhancer-promoter interaction. We employed targeted Capture-C at loci with GWAS for severe COVID-19, Type-1 Diabetes (T1D), Ankylosing spondylitis (AS) and red blood cell traits (RBC)

2021-08-13 | GSE159867 | GEO

Modelling of Red Blood Cell Trait GWAS Variants in HUDEP-2 Cells

Project description:Modelling of Red Blood Cell Trait GWAS Variants in HUDEP-2 Cells

| PRJNA517328 | ENA

Modelling of Red Blood Cell Trait GWAS Variants in HUDEP-2 Cells (RNA-seq)

Project description:Modelling of Red Blood Cell Trait GWAS Variants in HUDEP-2 Cells (RNA-seq)

| PRJNA517330 | ENA

Modelling of Red Blood Cell Trait GWAS Variants in HUDEP-2 Cells (ChIP-seq)

Project description:Modelling of Red Blood Cell Trait GWAS Variants in HUDEP-2 Cells (ChIP-seq)

| PRJNA517331 | ENA