Homology-directed CRISPR-Cas9 correction of the KRT5 p.E475G mutation in human iPSC line from a patient with severe epidermolysis bullosa simplex.
TL;DR
The generation of the human induced pluripotent stem cell line MLi002-A-1 is reported, an isogenic control derived from patient-specific MLi002-A line carrying the KRT5 c.1424A > G (p.E475G) mutation, which enables mutation-specific studies and in vitro modeling of epidermolysis bullosa simplex.
Abstract
Severe epidermolysis bullosa simplex is a skin fragility disorder characterized by blistering caused by cytolysis within basal keratinocytes, resulting in compromised epidermal integrity. Here we report the generation of the human induced pluripotent stem cell (hiPSC) line MLi002-A-1, an isogenic control derived from patient-specific MLi002-A line carrying the KRT5 c.1424A > G (p.E475G) mutation. Genome editing restored the wild-type sequence without detectable changes at top-predicted off-target sites. The edited line exhibits a normal karyotype, typical pluripotent morphology, robust pluripotency marker expression, and trilineage differentiation potential. This genetically matched control enables mutation-specific studies and in vitro modeling of epidermolysis bullosa simplex.