Homology-directed CRISPR-Cas9 correction of the KRT5 p.E475G mutation in human iPSC line from a patient with severe epidermolysis bullosa simplex.

CRISPR-Cas9 corrected the KRT5 p.E475G mutation in a human iPSC line from an epidermolysis bullosa simplex patient, restoring the wild-type sequence without off-target effects.

• Why it matters: Epidermolysis bullosa simplex causes skin blistering and compromised epidermal integrity, and a genetically matched control is needed for mutation-specific studies and disease modeling.
• What they did: Researchers generated an isogenic control iPSC line from a patient with the KRT5 mutation, using genome editing to restore the wild-type sequence and confirming no detectable off-target changes.
• The result: The edited iPSC line maintained normal karyotype, pluripotent morphology, pluripotency marker expression, and trilineage differentiation potential, enabling improved in vitro disease studies.