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The p.Ser143Pro lamin A/C mutation leads to dilated cardiomyopathy and activates the unfolded protein response pathway in a knock-in mouse model

GSE330200 Homo sapiens (human) RNA-seq (gene expression) 19 samples Submitted 2026/06/18 Platform GPL24676Platform GPL24247

At a glance

RNA-seq (gene expression) · human · 19 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: 19 samples: 6 × mice, heart, male, wt, vs 6 × mice, heart, male, hez, vs 6 × mice, heart, male, hom,Groups 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.

Summary (written by the submitters)

Dilated cardiomyopathy (DCM) is characterized by progressive ventricular dilation, systolic dysfunction, and an increased risk of arrythmias and sudden cardiac arrest. Variants in the LMNA gene, which encodesing for the nuclear lamins A and C, have been linked to familial form of the disease and the founder variant p.Ser143Pro is particularly common among Finnish DCM patients.

Read the full summary ↓

To clarify elucidate the complex and poorly understood pathogenic mechanisms behind LMNA-related DCM, we generated a mouse model carrying the p.Ser143Pro mutation in the Lmna gene. All genetically modified mice appeared normal at birth. However, based on echocardiographyic, necropsy, B-type natriuretic peptide (Nppb) expression levels, and histopathological data, homozygous males developed progressive left ventricular dilatation, myocardial fibrosis, and cardiac failure after six months of age, with all succumbing before ten months. A reduced disease penetrance was observed in heterozygous male and homozygous female mice, with one-year survival rates of 40% and 60%, respectively. No signs of skeletal myopathy were observed in mice carrying the mutation. Whole-transcriptome RNA sequencing analysis of left ventricular cardiac tissue from asymptomatic two-month-old homozygous male mice revealed an upregulation of classical heart failure markers, such as atrial natriuretic peptide (Nppa ) and myosin heavy chain β (Myh7), and an elevated unfolded protein response signaling, as shown by elevated DNA damage-inducible transcript 3 (Ddit), Bcl-2-associated athanogene 3 (Bag3) and CCAAT/enhancer-binding protein beta (Cebpb) levels especially in the homozygous males compared to wild-type mice. In conclusion, p.Ser143Pro-Lmna mice closely mimic the clinical phenotype observed in patients with the p.Ser143Pro LMNA variant and offerserve as a valuablepotential in vivo model for investigatingstudying the underlying pathogenic mechanisms of LMNA-related DCM in greater detail.

This dataset

Open GSE330200 in finder → Find more 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 GSE330200_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 PRJNA1463114 and SRA study SRP698257. Searching any of these in the dataset finder brings you back here.

NCBI GEO page ↗

Study design

6 × mice, heart, male, wt, vs 6 × mice, heart, male, hez, vs 6 × mice, heart, male, hom,

Supports a between-group comparison across 18 samples.

How we read this: 3 replicated groups read from 19 sample titles; they account for 18 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

GSM9721150 mice, heart, male, wt, rep1 mice, heart, male, wt,
GSM9721151 mice, heart, male, wt, rep2 mice, heart, male, wt,
GSM9721152 mice, heart, male, wt, rep3 mice, heart, male, wt,
GSM9721153 mice, heart, male, wt, rep4 mice, heart, male, wt,
GSM9721154 mice, heart, male, wt, rep5 mice, heart, male, wt,
GSM9721155 mice, heart, male, wt, rep6 mice, heart, male, wt,
GSM9721156 mice, heart, male, hez, rep1 mice, heart, male, hez,
GSM9721157 mice, heart, male, hez, rep2 mice, heart, male, hez,
GSM9721158 mice, heart, male, hez, rep3 mice, heart, male, hez,
GSM9721159 mice, heart, male, hez, rep4 mice, heart, male, hez,
GSM9721160 mice, heart, male, hez, rep5 mice, heart, male, hez,
GSM9721161 mice, heart, male, hez, rep6 mice, heart, male, hez,
GSM9721162 mice, heart, male, hom, rep1 mice, heart, male, hom,
GSM9721163 mice, heart, male, hom, rep2 mice, heart, male, hom,
GSM9721164 mice, heart, male, hom, rep3 mice, heart, male, hom,
GSM9721165 mice, heart, male, hom, rep4 mice, heart, male, hom,
GSM9721166 mice, heart, male, hom, rep5 mice, heart, male, hom,
GSM9721167 mice, heart, male, hom, rep6 mice, heart, male, hom,
GSM9721168 ctrl human brain

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