从一位患有突发性扩张型心肌病的患者中生成多能干细胞系 (UMGi270-A) 和相应的 CRISPR/Cas9 修饰的同基因对照系 (UMGi270-A-1)，该患者携带 FLNC p.R2187P 突变。
Generation of a pluripotent stem cell line (UMGi270-A) and a corresponding CRISPR/Cas9 modified isogenic control (UMGi270-A-1) from a patient with sudden onset dilated cardiomyopathy harboring a FLNC p.R2187P mutation.
机构信息
Clinic for Cardiology and Pneumology, Georg-August University Göttingen and DZHK (German Center for Cardiovascular Research), Partner Site Göttingen, Germany.
Institute of Pharmacology and Toxicology, University of Würzburg, Germany.
出版信息
Stem Cell Res. 2024 Jun;77:103409. doi: 10.1016/j.scr.2024.103409. Epub 2024 Mar 29.
Filamin C (FLNC) is a highly important actin crosslinker and multi-adaptor protein in striated skeletal and cardiac muscle. Mutations have been linked to a range of cardiomyopathy types. Here, we generated induced pluripotent stem cells (iPSC) from a patient with dilated cardiomyopathy (DCM) harboring a new, unique heterozygous FLNC mutation p.R2187P. From this patient-specific iPSC line, a corresponding isogenic control line was created by CRISPR/Cas9 genome editing. Both, the patient-specific and isogenic-control iPSC maintained full pluripotency, genomic integrity, and in vitro differentiation capacity. All iPSC lines differentiate into iPSC-cardiomyocytes, hence providing the possibility to study the pathogenesis of FLNC-mediated DCM further.
细丝蛋白 C（FLNC）是一种在横纹骨骼肌和心肌中高度重要的肌动蛋白交联剂和多接头蛋白。突变与多种心肌病类型有关。在这里，我们从一位患有扩张型心肌病（DCM）的患者中生成了诱导多能干细胞（iPSC），该患者携带一种新的、独特的杂合 FLNC 突变 p.R2187P。从这位患者特异性 iPSC 系中，通过 CRISPR/Cas9 基因组编辑创建了一个相应的同基因对照系。患者特异性和同基因对照 iPSC 均保持了完全的多能性、基因组完整性和体外分化能力。所有 iPSC 系均分化为 iPSC-心肌细胞，因此提供了进一步研究 FLNC 介导的 DCM 发病机制的可能性。
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