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

Stem cell research - 1 Jan 2022

Ader Flavie, Duboscq-Bidot Laetitia, Marteau Sibylle, Hamlin Matthieu, Richard Pascale, Fontaine Vincent, Villard Eric

Abstract excerpt

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...

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Identifiers

PMID: 34883448
DOI: 10.1016/j.scr.2021.102616

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