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


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. Copyright © 2021. Published by Elsevier B.V.

Authors Ader F, Duboscq-Bidot L, Marteau S, Hamlin M, Richard P, Fontaine V, Villard E
Journal Stem cell research
Publication Date 2022 Jan;58:102616
PubMed 34883448
DOI 10.1016/j.scr.2021.102616

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