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Titin truncating variant associated with atrial fibrillation leads to cell type-specific effects in atrial and ventricular patient hiPSC-CM models

GSE234141 Homo sapiens (human) RNA-seq (gene expression) 24 samples Submitted 2025/11/25 Platform GPL28337
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: 8 conditions, mostly in triplicateGroups 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
Atrial Fibrillation Related Titin Truncation Is Associated With Atrial Myopathy in Patient-Derived Induced Pluripotent Stem Cell Disease ModelsCirculation. Genomic and precision medicine · 2025
Summary (written by the submitters)
Protein truncating mutations in the titin gene are associated with increased risk of atrial fibrillation (AF). However, little is known regarding the underlying pathophysiology. We identified a heterozygous titin truncating variant in a patient with unexplained early-onset AF using whole exome sequencing.
Read the full summary ↓
We used atrial and ventricular patient induced pluripotent stem cell-derived cardiomyocytes (iPSC-CMs), CRISPR/Cas9 genetic correction, and engineered heart tissue (EHT) constructs to evaluate the impact of the titin truncating variant on electrophysiology, sarcomere structure, contractility, and gene expression.
Published in
Atrial Fibrillation Related Titin Truncation Is Associated With Atrial Myopathy in Patient-Derived Induced Pluripotent Stem Cell Disease Models
Huang K, Ashraf M, Rohani L et al. · Circulation. Genomic and precision medicine 2025 · PMID 39851047 · doi:10.1161/CIRCGEN.123.004412
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 GSE234141_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 PRJNA980189 and SRA study SRP441139. Searching any of these in the dataset finder brings you back here.

Study design
8 conditions, mostly in triplicate
iPSC-CM, ventricular, WT/TTNtv, ×3 iPSC-CM, atrial, WT/TTNtv, ×3 iPSC-CM, ventricular, WT/WT, ×3 iPSC-CM, atrial, WT/WT, ×3 EHT, ventricular, WT/TTNtv, ×3 EHT, atrial, WT/TTNtv, ×3 EHT, ventricular, WT/WT, ×3 EHT, atrial, WT/WT, ×3

Supports a between-group comparison across 24 samples.

How we read this: 8 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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