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

Trobec, Ana (avtor), Lorrain, Victor (avtor), Ilic, Dusko (avtor), Raymond, Karine (avtor), Liović, Mirjana (avtor)

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

• Jezik: Angleški jezik
• Ključne besede: CRISPR-Cas9, epidermolysis bullosa simplex, homology-directed repair (HDR), induced pluripotent stem cells (iPSC), isogenic control, KRTS
• Vrsta gradiva: Članek v reviji
• Tipologija: 1.01 - Izvirni znanstveni članek
• Organizacija: MF - Medicinska fakulteta
• Status publikacije: Objavljeno
• Različica publikacije: Objavljena publikacija
• Leto izida: 2026
• Št. strani: 6 str.
• Številčenje: Vol. 96, art. 104101
• PID: 20.500.12556/RUL-189546
• UDK: 61
• ISSN pri članku: 1876-7753
• DOI: 10.1016/j.scr.2026.104101
• COBISS.SI-ID: 294182659
• Datum objave v RUL: 09.10.2026

Gradivo je del revije

• Naslov: Stem cell research
• Založnik: Elsevier
• ISSN: 1876-7753
• COBISS.SI-ID: 524165401

Licence

• Licenca: CC BY 4.0, Creative Commons Priznanje avtorstva 4.0 Mednarodna
• Povezava: http://creativecommons.org/licenses/by/4.0/deed.sl
• Opis: To je standardna licenca Creative Commons, ki daje uporabnikom največ možnosti za nadaljnjo uporabo dela, pri čemer morajo navesti avtorja.

Sekundarni jezik

• Jezik: Slovenski jezik
• Ključne besede: enostavna mehurjasta epidermoliza, popravljanje usmerjeno s homologijo, inducirane pluripotentne matične celice, izogenska kontrola