Functional assay for assessment of pathogenicity of BAP1 variants.

Pauliina E RepoMichael P BacklundTero T KiveläJoni Antero Turunen

Published in: Human molecular genetics (2023)

BAP1 is essential for optimal fitness of HAP1 cells. Pathogenic and likely pathogenic BAP1 variants reduced cell fitness, reflected in adhesion/spreading and proliferation properties. Further, moderate effects were quantifiable. Variant modelling in HAP1 with CRISPR-Cas9 enabled functional analysis of coding and non-coding region variants in an endogenous expression system.

Keyphrases

copy number
crispr cas
physical activity
body composition
induced apoptosis
genome editing
poor prognosis
signaling pathway
single cell
biofilm formation
high throughput
cell therapy
high intensity
stem cells
binding protein
gene expression
bone marrow