Using CRISPR/Cas9 genome editing in human iPSCs for deciphering the pathogenicity of a novel CCM1 transcription start site deletion

Cerebral cavernous malformations are clusters of aberrant vessels that can lead to severe neurological complications. Pathogenic loss-of-function variants in the CCM1, CCM2, or CCM3 gene are associated with the autosomal dominant form of the disease. While interpretation of variants in protein-codin...

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Detalles Bibliográficos
Autores principales: Pilz, Robin A., Skowronek, Dariush, Hamed, Motaz, Weise, Anja, Mangold, Elisabeth, Radbruch, Alexander, Pietsch, Torsten, Felbor, Ute, Rath, Matthias
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Molecular Biosciences
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9453596/
https://www.ncbi.nlm.nih.gov/pubmed/36090026
http://dx.doi.org/10.3389/fmolb.2022.953048

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9453596/
https://www.ncbi.nlm.nih.gov/pubmed/36090026
http://dx.doi.org/10.3389/fmolb.2022.953048

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