Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Whole-exome sequencing of Fanconi anemia-like inherited bone marrow failure syndrome

ABSTRACT: We identified three fibroblast cultures derived from aplastic anemia patients in the Japanese Cancer Research Resources Bank (JCRB) Cell Bank that showed high levels of sister chromatid exchanges (SCEs) in PHA-stimulated lymphoblasts. To elucidate the genetic basis of the high SCE, we carried out whole exome sequencing of these samples. Subsequently, germline variants were analysed for these patients.

PROVIDER: EGAS00001003809 | EGA |

REPOSITORIES: EGA

ACCESS DATA

Json Xml

Similar Datasets

Expression data from normal and Fanconi anemia low density bone marrow cells

2009-09-15 | GSE16334 | GEO

Transcription profiling of human bone marrow cells from normal volunteers and from children and adults with Fanconi anemia

Project description:Fanconi anemia (FA) is a rare inherited disease complicated by aplastic anemia. There is evidence that hematopoietic stem cells have lost self replicative capacity and undergo apoptosis when exposed to inhibitory cytokines including interferon gamma and tumor necrosis factor-alpha. We used gene expression microarrays to identify transcriptomal differences between bone marrow cells from normal volunteers and from children and adults with Fanconi anemia Experiment Overall Design: Fanconi anemia patients were identified using mitomycin C and/or diepoxybutane chromosomal breakage analysis. Eleven normal volunteers and 21 FA patients were studied. All FA patients with cytogenetic evidence of clonal evolution were excluded. All FA patients with acute leukemia were excluded. RNA was prepared from freshly obtained low density mononuclear cell fractions.

2009-09-18 | E-GEOD-16334 | biostudies-arrayexpress

Single cell transcriptome from aplastic anemia (AA) and healthy donors [Full-length RNA-seq]

Project description:Transcriptome analysis of hematopoietic stem and progenitor cells (HSPCs) from aplastic anemia (AA) and healthy donors

2021-03-31 | GSE145531 | GEO

Bulk RNA-seq of aplastic anemia (AA) and healthy donors

Project description:Bulk RNA-seq data of Lin-CD34+ hematopoietic stem and progenitor cells derived from bone marrow of healthy donors and untreated aplastic anemia patients

2021-03-31 | GSE165870 | GEO

MicroRNA expression data from bone marrow T cells of acquired aplastic anemia patients and healthy individuals

Project description:Acquired aplastic anemia (AA) is an immune-mediated disease with active destruction of hematopoietic stem and progenitor cells by the cytotoxic T-cells in bone marrow. Aberrant expression of microRNAs in T-cells results in development of some autoimmune diseases.Screening the potential miRNAs which may play regulatory role in T cells of AA is meaningful to explore the mechanism of AA. We used microarrays to screen the differential expression pattern of miRNAs in T cells of aplatic anemia patients to find the potential regulatory miRNAs.

2017-01-01 | GSE82095 | GEO

Transplant Outcomes in Aplastic Anemia (TOAA)

Project description:Transplant Outcomes in Aplastic Anemia (TOAA)

| PRJNA494902 | ENA

Transplant Outcomes in Aplastic Anemia (TOAA)

Project description:Transplant Outcomes in Aplastic Anemia (TOAA)

| PRJNA494901 | ENA

Single-cell RNA sequencing of CD11b+ Ly6C+ Ly6G- sorted bone marrow cells from radiation control and severe aplastic anemia mice

Project description:During immune-mediated severe aplastic anemia (SAA) monocytes (CD11b+ Ly6C+ Ly6G-) signficantly increase by both frequency and number within the bone marrow. We isolated BM monocytes from F1 hybrid mice (C57BL/6;Balb/c) induced with SAA via the splenocyte-transfer model. We utilized single-cell RNA sequencing (scRNA-seq) to analyze the heterogenity of BM monocytes during SAA.

2023-07-19 | GSE237388 | GEO

Single cell transcriptome from aplastic anemia (AA) and healthy donors [3' RNA-seq]

Project description:Transcriptome analysis of hematopoietic stem and progenitor cells (HSPCs) and T cells collected from bone marrow and peripheral blood of healthy donors and aplastic anemia patients untreated or response to immunosuppressive therapy.

2021-03-31 | GSE145668 | GEO

Aplastic anemia

Project description:Clonal hematopoiesis was investigated in patients with aplastic anemia using next-generation sequencing and single-nucleotide polymorphism (SNP) array-based karyotyping.

| EGAS00001001153 | EGA

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