Derivation of RCPCMi011-A Induced Pluripotent Stem Cell Line from Fibroblasts of a Patient with Restrictive Cardiomyopathy Caused by c.7416_7418delGAA Mutation in the FLNC Gene

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发表日期：

2024年12月1日

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D. V. Goliusova,
O. S. Lebedeva,
M. Yu. Sharikova,
I. V. Kopylova,
M. V. Teryakova,
K. A. Lavrenteva,
E. A. Zerkalenkova,
A. N. Bogomazova,
M. A. Lagarkova

摘要

Abstract

Restrictive cardiomyopathy (RCM) is an orphan heart disease, which is characterized by an increase in myocardial stiffness and restriction of ventricular filling with blood in the diastole. Familial forms of RCM are associated with mutations in genes encoding sarcomeric and cytoskeletal proteins. One of them is the FLNC gene encoding the actin-binding protein of Z-disks filamin C (Brodehl et al., 2016). To study the pathogenetic mechanisms of FLNC-associated RCM at the cellular level, the authors generated iPSCs (RCPCMi011-A) from fibroblasts of a patient with RCM caused by the c.7416_7418delGAA/p.Glu2472_Asn2473delAsp mutation in the FLNC gene. The pluripotent state of RCPCMi011-A iPSCs was confirmed by typical stem cell morphology, normal male karyotype maintenance, expression of pluripotency markers, and the ability to differentiate into three germ layers.