{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["67(2)"],"submitter":["Chen J"],"pubmed_abstract":["<h4>Purpose</h4>Lattice and granular corneal dystrophy comprise two common TGFBI-associated autosomal dominant corneal disorders. Existing therapies are only temporizing and carry significant morbidity. Here, we develop a novel therapeutic approach using an adenine base editor (ABE) to correct common TGFBI mutations.<h4>Method</h4>We generated two human corneal epithelial (HCE) cell models harboring a copy of the most common disease-causing TGBFI mutations, R124C or R555W. These lines were electroporated with an ABE8e-NG-encoding mRNA and guide RNAs targeting the mutations. The resulting A•T-to-G•C editing efficiencies and off-target (OT) effects were assessed by amplicon sequencing. GFP-expressing adeno-associated viruses (AAVs) with different capsid types were transduced into HCE cells a"],"journal":["Investigative ophthalmology & visual science"],"pagination":["60"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12949465"],"repository":["biostudies-literature"],"pubmed_title":["CRISPR Base Editing Correction of TGFBI Mutations in Autosomal Dominant Corneal Dystrophies."],"pmcid":["PMC12949465"],"pubmed_authors":["Hou Z","Prasov L","Chen J","Ellis J","Blevins B","Zhang Y","Davison CW","Kong D","Presley W","Mian SI","Myers MT"],"additional_accession":[]},"is_claimable":false,"name":"CRISPR Base Editing Correction of TGFBI Mutations in Autosomal Dominant Corneal Dystrophies.","description":"<h4>Purpose</h4>Lattice and granular corneal dystrophy comprise two common TGFBI-associated autosomal dominant corneal disorders. Existing therapies are only temporizing and carry significant morbidity. Here, we develop a novel therapeutic approach using an adenine base editor (ABE) to correct common TGFBI mutations.<h4>Method</h4>We generated two human corneal epithelial (HCE) cell models harboring a copy of the most common disease-causing TGBFI mutations, R124C or R555W. These lines were electroporated with an ABE8e-NG-encoding mRNA and guide RNAs targeting the mutations. The resulting A•T-to-G•C editing efficiencies and off-target (OT) effects were assessed by amplicon sequencing. GFP-expressing adeno-associated viruses (AAVs) with different capsid types were transduced into HCE cells a","dates":{"release":"2026-01-01T00:00:00Z","publication":"2026 Feb","modification":"2026-07-16T23:24:44.721Z","creation":"2026-07-12T03:11:18.486Z"},"accession":"S-EPMC12949465","cross_references":{"pubmed":["41757824"],"doi":["10.1167/iovs.67.2.60"]}}