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Article

Human vascular organoids with a mosaic <i>AKT1</i> mutation recapitulate Proteus syndrome

2024-01-27

Abstract excerpt

Vascular malformation, a key clinical phenotype of Proteus syndrome, lacks effective models for pathophysiological study and drug development due to limited patient sample access. To bridge this gap, we built a human vascular organoid model replicating Proteus syndrome’s vasculature. Using CRISPR/Cas9 genome editing and gene overexpression, we created induced pluripotent stem cells (iPSCs) embodying the Proteus sy...

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Literature Corpus work
44bf684c-d5ed-5505-8563-6982b6ab27ab
DOI
10.1101/2024.01.26.577324
Open publication

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Human vascular organoids with a mosaic <i>AKT1</i> mutation recapitulate Proteus syndromeDOI 10.1101/2024.01.26.577324
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