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RNA-seq analysis for wild-type fibroblasts and patient fibroblasts bearing pathogenic EPG5 mutations

ABSTRACT: The aim of this study was to compare RNA-seq profiles of wild-type fibroblasts and patient-derived fibroblasts carrying pathogenic EPG5 mutations. Using an adjusted p-value threshold of < 0.05, we identified 5,303 differentially expressed transcripts in patient fibroblasts harboring a homozygous p.Gln336Arg missense mutation, of which 2,651 were upregulated and 2,652 were downregulated. In patient fibroblasts carrying compound heterozygous truncating mutations (p.Arg299*/p.Pro1827Ala), we identified 6,317 differentially expressed transcripts, including 3,239 upregulated and 3,078 downregulated transcripts, compared with control 1 fibroblasts.

ORGANISM(S): Homo sapiens

PROVIDER: GSE316460 | GEO | 2026/03/11

REPOSITORIES: GEO

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