20.500.12556/RUL-189546 Homology-directed CRISPR-Cas9 correction of the KRT5 p.E475G mutation in human iPSC line from a patient with severe epidermolysis bullosa simplex 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 CRISPR-Cas9 epidermolysis bullosa simplex homology-directed repair (HDR) induced pluripotent stem cells (iPSC) isogenic control KRTS enostavna mehurjasta epidermoliza popravljanje usmerjeno s homologijo inducirane pluripotentne matične celice izogenska kontrola true false true Angleški jezik Slovenski jezik Članek v reviji 2026-10-09 07:56:01 2026-10-09 07:56:06 2026-10-10 04:29:22 0000-00-00 00:00:00 2026 0 0 6 str. art. 104101 Vol. 96 2026 0000-00-00 Zaloznikova Objavljeno NiDoloceno 0000-00-00 0000-00-00 0000-00-00 61 1876-7753 10.1016/j.scr.2026.104101 294182659 https://www.sciencedirect.com/science/article/pii/S1873506126001972?via%3Dihub 1 fd5db452-c3a5-11f1-8bc5-0050569b8976 https://repozitorij.uni-lj.si/Dokument.php?lang=slv&id=250188 RAZ_Trobec_Ana_2026.pdf RAZ_Trobec_Ana_2026.pdf 1 1BEBBEEE6C4379EBE01C73993D7E4521 dc2f1d7c97fac1db441d511cb6f154c6af93da615653736dcf23a115c66e0250 cdc6221e-c3a6-11f1-8bc5-0050569b8976 https://repozitorij.uni-lj.si/Dokument.php?lang=slv&id=250195 Medicinska fakulteta 0 0 0