Stem cell study demonstrates successful CRISPR knockout of VHL while preserving pluripotency, suggesting a viable model for early tumor initiation.
The von Hippel-Lindau (VHL) tumor suppressor gene is crucial for cellular homeostasis, and its loss leads to VHL syndrome. To model early effects of VHL deficiency, we used CRISPR/Cas9 to generate human iPSC lines with heterozygous or homozygous out-of-frame deletions in exon 1. Both clones showed normal morphology, genomic stability, expression of undifferentiated markers, and tri-lineage differentiation potential. These models offer a valuable system to study early lineage specification and tumor initiation linked to VHL loss.
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Grüner et al. (2025) studied this question.
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