Modeling Cohen Syndrome in Phoenix Cells: VPS13B Loss Causes Organelle Stress, G1/S Delay, and Fibrillary Inclusion Bodies Formation.

Abstract excerpt

Cohen syndrome, caused by pathogenic variants in VPS13B, is characterized by microcephaly, developmental delay, and progressive retinal degeneration, yet the cellular mechanisms linking VPS13B dysfunction to disease pathology remain incompletely understood. Here, we used CRISPR-Cas9 to delete VPS13B exons 2-4 in Phoenix HEK293 cells, generating five independent knockout clones. In all mutant lines, VPS13B...

Topics

• Humans
• Microcephaly
• Vesicular Transport Proteins
• Intellectual Disability
• Golgi Apparatus
• Muscle Hypotonia