Generation of CRISPR-Cas9 edited human induced pluripotent stem cell line carrying FLNC exon skipping variant - Institut de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition Accéder directement au contenu
Article Dans Une Revue Stem Cell Research Année : 2021

Generation of CRISPR-Cas9 edited human induced pluripotent stem cell line carrying FLNC exon skipping variant

Résumé

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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Origine : Publication financée par une institution

Dates et versions

hal-03475229 , version 1 (10-12-2021)

Identifiants

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Flavie Ader, Laetitia Duboscq-Bidot, Sibylle Marteau, Matthieu Hamlin, Pascale Richard, et al.. Generation of CRISPR-Cas9 edited human induced pluripotent stem cell line carrying FLNC exon skipping variant. Stem Cell Research, 2021, 58, pp.102616. ⟨10.1016/j.scr.2021.102616⟩. ⟨hal-03475229⟩
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