Splicing defects and CRISPR-Cas9 correction in isogenic homozygous photoreceptor precursors harboring clustered deep-intronic ABCA4 variants.

ABCA4 CRISPR-Cas9 MT: RNA/DNA Editing Stargardt gene editing iPSCs inherited retinal disease isogenic photoreceptor precursors splicing

Journal

Molecular therapy. Nucleic acids
ISSN: 2162-2531
Titre abrégé: Mol Ther Nucleic Acids
Pays: United States
ID NLM: 101581621

Informations de publication

Date de publication:
12 Mar 2024
Historique:
received: 19 09 2023
accepted: 21 12 2023
medline: 26 1 2024
pubmed: 26 1 2024
entrez: 26 1 2024
Statut: epublish

Résumé

Splicing defects from deep-intronic variants significantly contribute to the mutational spectrum in

Identifiants

pubmed: 38274366
doi: 10.1016/j.omtn.2023.102113
pii: S2162-2531(23)00331-1
pmc: PMC10809099
doi:

Types de publication

Journal Article

Langues

eng

Pagination

102113

Informations de copyright

© 2023 The Author(s).

Déclaration de conflit d'intérêts

The authors declare no competing interests.

Auteurs

Pietro De Angeli (P)

Institute for Ophthalmic Research, Centre for Ophthalmology, University Clinics Tübingen, Elfriede-Aulhorn-Str. 7, 72076 Tübingen, Germany.

Arturo Flores-Tufiño (A)

Institute for Ophthalmic Research, Centre for Ophthalmology, University Clinics Tübingen, Elfriede-Aulhorn-Str. 7, 72076 Tübingen, Germany.

Katarina Stingl (K)

University Eye Hospital, Centre for Ophthalmology, University Clinics Tübingen, Elfriede-Aulhorn-Str. 7, 72076 Tübingen, Germany.

Laura Kühlewein (L)

University Eye Hospital, Centre for Ophthalmology, University Clinics Tübingen, Elfriede-Aulhorn-Str. 7, 72076 Tübingen, Germany.

Eleonora Roschi (E)

Institute for Ophthalmic Research, Centre for Ophthalmology, University Clinics Tübingen, Elfriede-Aulhorn-Str. 7, 72076 Tübingen, Germany.
Wellcome Sanger Institute, Hinxton CB10 1RQ, Saffron Walden, UK.

Bernd Wissinger (B)

Institute for Ophthalmic Research, Centre for Ophthalmology, University Clinics Tübingen, Elfriede-Aulhorn-Str. 7, 72076 Tübingen, Germany.

Susanne Kohl (S)

Institute for Ophthalmic Research, Centre for Ophthalmology, University Clinics Tübingen, Elfriede-Aulhorn-Str. 7, 72076 Tübingen, Germany.

Classifications MeSH