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

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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https://hal.sorbonne-universite.fr/hal-03475229
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Submitted on : Friday, December 10, 2021 - 4:53:56 PM
Last modification on : Friday, May 20, 2022 - 11:06:56 AM
Long-term archiving on: : Friday, March 11, 2022 - 7:37:55 PM

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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, Elsevier, 2021, 58, pp.102616. ⟨10.1016/j.scr.2021.102616⟩. ⟨hal-03475229⟩

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