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Transcriptomic analysis of ASD and IDD associated pathogenic MYT1L S707Q mutation in human cortical interneurons

GSE244189 Homo sapiens (human) RNA-seq (gene expression) 24 samples Submitted 2025/01/18 Platform GPL24676
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: 6 conditions, mostly with about 4 replicates eachGroups 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
Autism- and intellectual disability-associated MYT1L mutation alters human cortical interneuron differentiation, maturation, and physiologyStem cell reports · 2025
Summary (written by the submitters)
We have used our protocol for generating cortical interneurons from human stem cells to study gene expression changes caused by the (S707QfsX56) mutation in the MYT1L gene, using both patient derived (PD) and variant knock in (VKI) models.
Published in
Autism- and intellectual disability-associated MYT1L mutation alters human cortical interneuron differentiation, maturation, and physiology
Prakasam R, Determan J, Chapman G et al. · Stem cell reports 2025 · PMID 40020682 · doi:10.1016/j.stemcr.2025.102421
This dataset
Open GSE244189 in finder → Find more human RNA-seq datasets →
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.

Series matrix ↓
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 GSE244189_RAW.tar (it can run to tens of gigabytes).

All supplementary files ↗ Whole study · RAW.tar ↓
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.

Raw reads on ENA ↗

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 PRJNA1021625 and SRA study SRP463530. Searching any of these in the dataset finder brings you back here.

NCBI GEO page ↗ Paper (PMID 40020682) ↗
Study design
6 conditions, mostly with about 4 replicates each
H1 VKI-S707QfsX56 Clone1 Sample ×4 H1 VKI-S707QfsX56 Clone2 Sample ×4 H1 WT Sample ×4 PD S707QfsX56 Clone1 Sample ×4 PD S707QfsX56 Clone2 Sample ×4 PD WT Sample ×4

Supports a between-group comparison across 24 samples.

How we read this: 6 replicated groups read from 24 sample titles; they account for 24 of them. 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.