CRISPR/Cas9-mediated editing of VHL in induced pluripotent stem cells: A model for early cell fate in von Hippel-Lindau syndrome

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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Publication Details

Journal
Stem Cell Research
Published
2025-06-02
DOI
https://doi.org/10.1016/j.scr.2025.103748
Primary Topic
RNA modifications and cancer
Type
article
Field-Weighted Citation Impact
0.00
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article

CRISPR/Cas9-mediated editing of VHL in induced pluripotent stem cells: A model for early cell fate in von Hippel-Lindau syndrome

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Stem Cell Research
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article

CRISPR/Cas9-mediated editing of VHL in induced pluripotent stem cells: A model for early cell fate in von Hippel-Lindau syndrome

Sven Gläsker, Tim F. Grüner, Aaron Thomas, Jochen Dobner, Haribaskar Ramachandran, Andrea Rossi, Barbara Hildebrandt
article en

Abstract

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.

Stem Cell ResearchVol. 87
Vrije Universiteit Brussel (BE), Düsseldorf University Hospital (DE), Leibniz Institute of Environmental Medicine (DE), Heinrich Heine University Düsseldorf (DE)
Zero hunger
Openalex Percentile: Top 89%
RNA modifications and cancer
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