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Bioinformatics Institute</center_name><center_name>Department of Biochemistry and Molecular Biology University of Southern Denmark</center_name><full_dataset_link>https://www.ebi.ac.uk/ena/browser/view/PRJEB70285</full_dataset_link><broker_name>ArrayExpress</broker_name><long_description>Cellular models of propionic acidemia were generated using HepG2 cells that were edited by CRISPR gene editing to introduce the pathogenic PCCA c.1285-1416A>G variant associated with propionic acidemia, and a 7 bp deletion of a predicted hnRNP A1 binding motif (c.1285-1411delTAGAACA), which causes complete and partial activation of an 84 bp pseudoexon from intron 14 in the PCCA gene, respectively. Treatment by transfection of splice-switching antisense oligonucleotides (SSO) to block inclusion of the PCCA pseudoexon in mRNA, was used to investigate this as a potential therapeutic strategy.</long_description><repository>ENA</repository></additional><is_claimable>false</is_claimable><name>RNA-seq of human cell line HepG2 edited with CRISPR and treated with splice-switching oligo inhibiting a pseudoexon in PCCA against control SSO and control HepG2 cells</name><description>RNA-seq of human cell line HepG2 edited with CRISPR and treated with splice-switching oligo inhibiting a pseudoexon in PCCA against control SSO and control HepG2 cells</description><dates><last_updated>2023-12-10</last_updated><first_public>2023-12-10</first_public></dates><accession>PRJEB70285</accession><cross_references/></HashMap>