CRISPR/Cas9-mediated editing of ERCC6 in iPSCs: A disease model for Cockayne Syndrome type B.

Gamil Hamam-Marawi; Marianthi Papadopoulou; Haribaskar Ramachandran; Jochen Dobner; Stephanie Binder; Barbara Hildebrandt; Jean Krutmann; Andrea Rossi

doi:10.1016/j.scr.2026.104044

PubMed · 42349105

CRISPR/Cas9-mediated editing of ERCC6 in iPSCs: A disease model for Cockayne Syndrome type B.

Gamil Hamam-Marawi·Marianthi Papadopoulou·Haribaskar Ramachandran·Jochen Dobner·Stephanie Binder·Barbara Hildebrandt·Jean Krutmann·Andrea Rossi

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Abstract

Cockayne Syndrome type B (CSB) is caused by mutations in the ERCC6 gene, which encodes a key protein involved in transcription-coupled nucleotide excision repair (TC-NER) and chromatin remodeling. Deficiency in CSB leads to defective transcriptional recovery after DNA damage, oxidative stress accumulation, and progressive neurodegeneration. In this work, we generated a CRISPR/Cas9-engineered human induced pluripotent stem cell (iPSC) line, IUFi004-A-12, carrying a homozygous mutation in ERCC6 causing a premature stop codon in its 10th exon. The modified iPSCs displayed normal morphology, expressed pluripotency markers, and differentiated into all three germ layers. This model enables mechanistic studies of CSB dysfunction and facilitates therapeutic development for Cockayne Syndrome.

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Humans Poly-ADP-Ribose Binding Proteins Cockayne Syndrome DNA Helicases Induced Pluripotent Stem Cells DNA Repair Enzymes CRISPR-Cas Systems Cell Line Base Sequence Cell Differentiation Excision Repair Journal Article

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BibTeX RIS

Gamil Hamam-Marawi, Marianthi Papadopoulou, Haribaskar Ramachandran, Jochen Dobner, Stephanie Binder, Barbara Hildebrandt, Jean Krutmann, Andrea Rossi. 2026-06-22. CRISPR/Cas9-mediated editing of ERCC6 in iPSCs: A disease model for Cockayne Syndrome type B.. https://doi.org/10.1016/j.scr.2026.104044

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