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Article

CRISPR/Cas9-based repair of a heterozygous HNF1A mutation in patient-derived hiPSCs.

Human genetics - 12 Aug 2026

Skoczek Dawid, Hohendorff Jerzy, Malecki Maciej T, Roig-Merino Alicia, Bak Rasmus O, Kachamakova-Trojanowska Neli

Abstract excerpt

Human induced pluripotent stem cells (hiPSCs) represent a powerful platform for disease modeling, especially in monogenic diseases as they preserve the donor's genetic background while enabling directed differentiation into disease-relevant cell types. This makes them highly suitable for studying disease mechanisms in a patient-specific and physiologically relevant context. Although CRISPR/Cas9 is widely applied...

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Identifiers

PMID: 42584708
DOI: 10.1007/s00439-026-02863-0
PMCID: PMC13469492

Genes

HNF1A

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