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Effects of RRAGD p.(Ser76Leu) variant in human induced pluripotent stem cell-derived cardiomyocytes gene expression

GSE323990 Homo sapiens Expression profiling by high throughput sequencing 8 samples Submitted 2026/03/13 Platform GPL30173
Summary
RRAGD p.(Ser76Leu) has been associated with dilated cardiomyopathy. To study the effects of this variant on cardiomyocyte gene expression profile, we generated a human induced pluripotent stem cell-derived cardiomyocyte (hiPSC-CM) model carrying heterozygous mutation of the variant. After bulk-RNA seq, we showed that 124 genes were upregulated and 48 genes were downregulated in RRAGD p.(Ser76Leu) hiPSC-CMs compared to RRAGD WT hiPSC-CMs. Further analyses revealed that pathways related to muscle development were downregulated, while pathways associated with actin cytoskeleton regulation were upregulated.
Published in
RRAGD p.(Ser76Leu) Variant Causes Dysregulated Expression of Muscle Development and Cytoskeleton Genes in Cardiomyocytes
Adella A, van Katwijk SB, Leermakers PA et al. · FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2026 · PMID 42329298 · doi:10.1096/fj.202501099RR
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Also filed as BioProject PRJNA1432913 and SRA study SRP681252. Searching any of these in the dataset finder brings you back here.

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