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Generation of corrected hiPSC clones from a Cornelia de Lange Syndrome (CdLS) patient through CRISPR-Cas-based technology.

Stem cell research & therapy - 2 Sept 2022

Umbach Alessandro, Maule Giulia, Kheir Eyemen, Cutarelli Alessandro, Foglia Marika, Guarrera Luca, Fava Luca L, Conti Luciano, Garattini Enrico, Terao Mineko, Cereseto Anna

Abstract excerpt

BACKGROUND: 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...

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PMID: 36056433
DOI: 10.1186/s13287-022-03135-0
PMCID: PMC9438151

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Generation of corrected hiPSC clones from a Cornelia de Lange Syndrome (CdLS) patient through CRISPR-Cas-based technology.PMID 36056433Read ↗

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