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The genotype-integrated gene expression profile at the single-cell level of bone marrow CD34-positive hematopoietic stem and progenitor cells (HSPCs) from a patient with myelodysplastic neoplasms (MDS) harboring germline and somatic DDX41 variants.

GSE284647 Homo sapiens (human) Single-cell RNA-seq 1 samples Submitted 2025/06/09 Platform GPL24676
At a glance

Single-cell RNA-seq · human · 1 samples

What it is
Single-cell RNA-seqGene activity measured in thousands of individual cells, so cell types can be told apart.
Organism
Homo sapiens (human)
Topic
Myelodysplastic syndromesThis series is part of our curated briefing on it.
Samples
1 samples
Data you can get
A processed table (series matrix) and supplementary files from NCBI; the raw sequencing reads from ENA. Which of these hold counts depends on the study, so check the file list.
Paper
Genotype-integrated single-cell transcriptome analysis reveals the role of DDX41 pR525H in a patient with myelodysplastic neoplasmsScientific reports · 2025
Summary (written by the submitters)
DDX41 is recognized as a major gene responsible for myeloid neoplasms associated with germline predisposition. Individuals typically inherit a germline pathogenic variant in one allele and later acquire a somatic variant—most commonly the p.R525H variant—in the other allele, leading to the development of myeloid neoplasms. In this study, we conducted single-cell RNA sequencing integrated with p.R525 site genotyping to investigate how acquiring the p.R525H variant influences gene expression changes in hematopoietic cells.
Published in
Genotype-integrated single-cell transcriptome analysis reveals the role of DDX41 pR525H in a patient with myelodysplastic neoplasms
Matsui H, Nagamachi A, Koizumi M et al. · Scientific reports 2025 · PMID 40596075 · doi:10.1038/s41598-025-06477-w
This dataset
Download · which file do I need?

Direct links to NCBI and ENA, no account and no request form. Pick by what you want to do: take the small processed table to look, the supplementary files to re-analyse, or the original raw data to start over.

1 · Just have a look

Processed table

The series matrix: one table of values per sample as the submitters processed it. The smallest download, and it opens in Excel or R. Start here to see what the data look like.

2 · Re-analyse it

Supplementary files

The count tables and other files the authors uploaded. Take only the samples you need, or the whole study as GSE284647_RAW.tar (it can run to tens of gigabytes).

3 · Start from the raw reads

Raw sequencing reads

The original FASTQ files, straight from the sequencer, held at ENA. Large, and you align them yourself, so only choose this if you need to re-process the study from scratch.

What the files usually look like: Single-cell studies usually ship their counts as 10x files (matrix.mtx, barcodes.tsv, features.tsv), an .h5 file, or an .rds / .h5ad object that Seurat or Scanpy can open. Look for those among the supplementary files.

Also filed as BioProject PRJNA1199993 and SRA study SRP552332. Searching any of these in the dataset finder brings you back here.

Samples in this study

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