Journal
STEM CELL RESEARCH
Volume 48, Issue -, Pages -Publisher
ELSEVIER
DOI: 10.1016/j.scr.2020.101977
Keywords
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Funding
- Ministry of Science and Technology of China (National Science and Technology Major Project) [2018YFA0109100]
- National Natural Science Foundation of China [31871496]
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The mutations of desmoplakin (DSP) lead to arrhythmia right ventricular cardiomyopathy (ARVC) which is a kind of progressive cardiomyopathy characterized by arrhythmia, heart failure and sudden cardiac death. The human induced pluripotent stem (iPS) cell line HUBUi001-A was generated from a patient carrying the compound DSP heterozygous mutations (c.104G > T p.G35V; c.5617C > T p.R1873C), which were inherited from his parents (HUBUi002-A, HUBUi003- A), who presented a normal phenotype. We have derived the iPSC cell lines through peripheral blood mononuclear (PBMCs) cell reprogramming technology. Pluripotency and differentiation capacity have been confirmed by RT-PCR, immunocytochemistry and teratoma experiment. These cell lines can help us understand the pathogenic mechanism and screening potential therapeutic options.
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