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August 14, 2026Human GeneticsOpen Access

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

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Authors

DSDawid SkoczekJHJerzy HohendorffMMMaciej Malecki

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Overview

In vitro study demonstrates precise CRISPR/Cas9 correction of a heterozygous HNF1A mutation in patient hiPSCs, highlighting optimized protocols for monogenic disease modeling.

Key Points

  • To establish an optimized CRISPR/Cas9 gene-editing protocol to correct a heterozygous HNF1A frameshift mutation in patient-derived human induced pluripotent stem cells.
  • Delivered Cas9-sgRNA ribonucleoprotein complexes and single-stranded oligodeoxynucleotide repair templates into HNF1A-MODY patient-derived hiPSCs using electroporation.
  • Evaluated edited hiPSC clones for successful sequence repair, retention of pluripotency, elimination of exogenous reprogramming factors, and potential off-target genomic cleavage.
  • Successfully corrected the heterozygous HNF1A frameshift mutation (c.235_236insG; p.Glu79Glyfs*16) in patient-derived hiPSCs.
  • Confirmed that the gene-corrected hiPSC lines preserved pluripotency markers and remained free of detectable off-target mutations and residual reprogramming factors.

Cite This Study

Skoczek et al. (2026) studied this question.

synapsesocial.com/papers/6a7ec707b70b84ec8b913246https://doi.org/10.1007/s00439-026-02863-0
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