Generation and characterization of four iPSC and isogenic gene-corrected lines from Legius syndrome patients

Legius syndrome is an autosomal dominant disorder caused by variants in SPRED1. In this study, we generated four induced pluripotent stem cell (iPSC) lines derived from patients with Legius syndrome by reprogramming peripheral blood mononuclear cells. Using CRISPR/Cas9 or prime editing, the pathogenic variants were corrected to generate isogenic control lines. All patient and isogenic control lines exhibited a normal morphology and karyotype, expressed pluripotency markers, and possessed trilineage differentiation potential. This is the first established human iPSC model developed for Legius syndrome and is a valuable resource for investigating the molecular mechanisms underlying this condition.