Using gene editing to fix a KRT5 mutation in patient-derived stem cells from severe epidermolysis bullosa simplex

The human induced pluripotent stem cell (hiPSC) line MLi002-A-1 was generated as an isogenic control from a patient-specific line with a KRT5 mutation.

• The generated hiPSC line has been edited to restore the wild-type sequence of the KRT5 gene.
• No detectable changes were found at top-predicted off-target sites after genome editing.
• The edited hiPSC line displays a normal karyotype and typical pluripotent morphology.
• It shows robust expression of pluripotency markers and potential for trilineage differentiation.
• This isogenic control line may facilitate mutation-specific studies and in vitro modeling of epidermolysis bullosa simplex.

Simplified