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Metabolomics,Unknown,Transcriptomics,Genomics,Proteomics

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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

ABSTRACT: 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.

INSTRUMENT(S): Illumina NovaSeq 6000

ORGANISM(S): Homo sapiens

SUBMITTER: Thomas Doktor

PROVIDER: E-MTAB-13549 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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