Cornelia de Lange syndrome (CdLS) is a rare multisystem genetic disorder which is caused by genetic defects involving the Nipped-B-like protein (NIPBL) gene in the majority of clinical cases (60-70%). Currently, there are no specific cures available for CdLS and clinical management is needed for life. Disease models are highly needed to find a cure. Among therapeutic possibilities are genome editing strategies based on CRISPR-Cas technology.
Generation of corrected hiPSC clones from a Cornelia de Lange Syndrome (CdLS) patient through CRISPR-Cas-based technology / Umbach, Alessandro; Maule, Giulia; Kheir, Eyemen; Cutarelli, Alessandro; Foglia, Marika; Guarrera, Luca; Fava, Luca; Conti, Luciano; Garattini, Enrico; Terao, Mineko; Cereseto, Anna. - In: STEM CELL RESEARCH & THERAPY. - ISSN 1757-6512. - 13:1(2022), pp. 44001-44013. [10.1186/s13287-022-03135-0]
Generation of corrected hiPSC clones from a Cornelia de Lange Syndrome (CdLS) patient through CRISPR-Cas-based technology
Umbach, Alessandro;Maule, Giulia;Kheir, Eyemen;Cutarelli, Alessandro;Fava, Luca;Conti, Luciano;Cereseto, Anna
2022-01-01
Abstract
Cornelia de Lange syndrome (CdLS) is a rare multisystem genetic disorder which is caused by genetic defects involving the Nipped-B-like protein (NIPBL) gene in the majority of clinical cases (60-70%). Currently, there are no specific cures available for CdLS and clinical management is needed for life. Disease models are highly needed to find a cure. Among therapeutic possibilities are genome editing strategies based on CRISPR-Cas technology.| File | Dimensione | Formato | |
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