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