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Bulk RNA-seq of SIT1 knockout and control T cells from human healthy donors

GSE325729 Homo sapiens (human) RNA-seq (gene expression) 24 samples Submitted 2026/03/28 Platform GPL34284
At a glance

RNA-seq (gene expression) · human · 24 samples

What it is
RNA-seq (gene expression)Gene activity measured by sequencing. The summary does not mention single-cell work, so this is most likely bulk: one average per sample, the usual starting point for comparing groups.
Organism
Homo sapiens (human)
Samples
24 samples: 18 distinct titles, 5 of them repeatedGroups are read from the sample names, not from the paper. Check the list below.
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
Homozygous loss-of-function mutation in SIT1 leads to combined immunodeficiency due to dysregulated T-cell receptor signalingThe Journal of allergy and clinical immunology · 2026
Summary (written by the submitters)
The transmembrane adaptor protein SIT1 is a negative regulator of T cell receptor (TCR) signaling, but its role in human immunity remains poorly characterized. We performed bulk RNA sequencing (RNA-seq) on T cells derived from human healthy donors. SIT1 knockout (KO) was generated in primary T cells, and transcriptomic profiles were compared between SIT1 KO and control cells.
Read the full summary ↓
This dataset enables the characterization of gene expression changes associated following SIT1 loss. Due to applicable data privacy regulations, identifiable information, including raw sequencing data from the participants, cannot be deposited in public repositories. Qualified researchers may request access to the data by submitting a formal application demonstrating compliance with the participants’ consent conditions. The consent signed by the study participants enables the use of data for study of rare immunological and hematological diseases. Requests should be directed to [email protected] Processed gene expression data (read counts) and associated metadata are provided in this submission, providing a resource for studying SIT1-dependent transcriptional regulation in human T cells
Published in
Homozygous loss-of-function mutation in SIT1 leads to combined immunodeficiency due to dysregulated T-cell receptor signaling
Chen P, Le KM, Li W et al. · The Journal of allergy and clinical immunology 2026 · PMID 42128181 · doi:10.1016/j.jaci.2026.03.030
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 GSE325729_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: For RNA-seq the counts are usually a table among the supplementary files (look for 'counts', 'expression', 'FPKM' or 'TPM' in the file name). The series matrix of a sequencing study is sometimes nearly empty.

Also filed as BioProject PRJNA1441533. Searching any of these in the dataset finder brings you back here.

Study design
18 distinct titles, 5 of them repeated
AAVS1_sgRNA(control), unstimulated, donor2, ×3 AAVS1_sgRNA(control), anti-CD3 stimulated for… ×2 AAVS1_sgRNA(control), anti-CD3 stimulated for… ×2 AAVS1_sgRNA(control), unstimulated, donor1, ×2 AAVS1_sgRNA(control), unstimulated, donor3, ×2

How we read this: Read from 24 sample titles: 18 distinct titles with little repetition. These groups are guessed from the sample names, not taken from the paper, so check them against the sample list below before relying on them.

Samples in this study
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Metadata from NCBI GEO, cached and refreshed periodically — the NCBI page above is authoritative. Downloads link straight to NCBI/ENA; nothing is proxied through BioTransfer.