从4名携带与扩张型心肌病相关的Titin截断变异的患者中产生iPSC系（ICHi001-A、ICHi002-A、ICHi003-A、ICHi004-A）

IF 0.8 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research Pub Date : 2025-04-20 DOI:10.1016/j.scr.2025.103719

Cecilia Thairi , Rebecca Artioli , Marianna Paulis , Camilla Galli , Simon Cotič , Alessia Paldino , Ilenia Marino , Gianfranco Sinagra , Chiara Collesi , Matteo Dal Ferro , Elisa Di Pasquale

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引用次数: 0

摘要

遗传性扩张型心肌病（iDCM）是一种心肌疾病，以左心室增大、收缩功能障碍和心律失常为特征。iDCM是心力衰竭的常见原因，也是心脏移植的最常见原因。在致病基因中，编码肌合成蛋白Titin的TTN最为普遍（约占病例的25%）。不同的临床表现和不同的治疗反应是患者临床管理的主要挑战。为了加深对这种疾病的认识，我们从4名iDCM患者身上获得了携带4种不同TTN基因截断变体的诱导多能干细胞系，并对其进行了充分的表征。

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Generation of iPSC lines (ICHi001-A, ICHi002-A, ICHi003-A, ICHi004-A) from four patients carrying Titin truncating variants associated with dilated cardiomyopathy

Inherited dilated cardiomyopathy (iDCM) is a disease of the heart muscle, characterized by left ventricle enlargement, systolic dysfunction and arrhythmias. iDCM represents a common cause of heart failure and the most frequent cause of heart transplantation. Among the causative genes, TTN, encoding the sarcomeric protein Titin, represents the most prevalent (about 25 % of cases). The heterogeneous clinical manifestations and variable response to therapy represent a major challenge in patients’ clinical management. To deepen the knowledge of this disease, we generated and fully characterized induced Pluripotent Stem Cell lines from 4 iDCM patients carrying 4 different truncating variants of TTN gene.

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来源期刊

Stem cell research 生物-生物工程与应用微生物

CiteScore

2.20

自引率

8.30%

发文量

338

审稿时长

55 days

期刊介绍： Stem Cell Research is dedicated to publishing high-quality manuscripts focusing on the biology and applications of stem cell research. Submissions to Stem Cell Research, may cover all aspects of stem cells, including embryonic stem cells, tissue-specific stem cells, cancer stem cells, developmental studies, stem cell genomes, and translational research. Stem Cell Research publishes 6 issues a year.