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Effect of the Mutated p.H222P A-type Lamins on Gene Expression in Both Patient-Derived Cardiomyocytes and Mouse Models of Dilated Cardiomyopathy

GSE289418 Mus musculus; Homo sapiens Expression profiling by high throughput sequencing 10 samples Submitted 2025/02/17 Platform GPL24247Platform GPL24676
Summary
Mutation on A-type lamins encoding gene can lead to a wide-range of diseases called laminopathies, including dilated cardiomyopathy. Nuclear lamins are integral to a physical continuum connecting the extracellular environment and the nuclear interior, playing a crucial role in load-bearing tissues like the heart to preserve mechanical integrity and genome stability. To investigate the impact of the LMNA p.H222P mutation on gene expression, we conducteed bulk RNA-seq in hiPSCs-derived cardiomyocytes and mouse cardiomyocytes, both carrying this mutation. Our results reveal that the LMNA p.H222P mutation leads to dysregulated gene expression, which may contribute to LMNA cardiomyopathy pathogenesis.
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Direct links to NCBI, no account and no request form: the whole study as GSE289418_RAW.tar, processed values as the series matrix, the supplementary file directory, and per-sample supplementary files for any of the 10 samples. Raw sequencing reads are also available from ENA.

Also filed as BioProject PRJNA1222883 and SRA study SRP563478. Searching any of these in the dataset finder brings you back here.

Study design
3 × hiPSCs-CMs LMNA corr.H222P vs 3 × mCM Lmna vs 2 × hiPSCs-CMs LMNA H222P vs 2 × mCM WT

Supports a between-group comparison across 10 samples.

4 replicated groups read from 10 sample titles; they account for 10 of them. Check it against the sample list below before relying on it.

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