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Updated: Oct 10, 2025

Generation of Defined Genomic Modifications Using CRISPR-CAS9 in Human Pluripotent Stem Cells
Published on: September 25, 2019
Generation of CRISPR-Cas9 edited human induced pluripotent stem cell line carrying FLNC exon skipping variant
Flavie Ader1, Laetitia Duboscq-Bidot2, Sibylle Marteau3
1Sorbonne Université, INSERM, UMR_S 1166, Paris 75013, France; Molecular and Cellular Cardiogenetic and Myogenetic Functional Unit, Hôpital Pitié Salpétrière, DMU BioGem, APHP-Sorbonne Université, Paris, France; Département 3, UP de Biochimie, UFR de Pharmacie, Université de PARIS, Paris, France.
Abstract:
Loss-of-function (LoF) mutations in FLNC are strongly associated with dilated cardiomyopathy (DCM). Using CRISPR/Cas9 mediated edition in an healthy donor derived iPSC (ICAN-403.3) we subcloned 1 iPSC line harboring LoF mutation in FLNC. All lines are fully pluripotent and isogenic except at edited site where it presents a homozygous (ICAN-FLNC42.1) deletion of splice site leading to skipping of exon 42 traduced into a short filamin form with reduced expression in derived cardiomyocytes. This line would serve for FLNC mutation DCM modeling after differentiation into cardiocytes or beating organoids.
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