Dilated cardiomyopathy (DCM) is one of the most common cardiomyopathy subtypes with clinically characteristic by ventricular dilation and impaired contraction. This disease cell model belongs to DCM, a mutation (W976R) occur in the TTN gene. Generating pluripotent stem cells from cryopreserved T-cells, then differentiate into cardiac myocytes. This disease cell model provides a platform to explore disease mechanisms in human genetic cardiac disorders.
Specifications | |
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Organ System | Cardiovascular System |
Disease | DCM |
Target Gene | TTN |
Gene Function | Titin (TTN) is a massive protein that spans half of the sarcomere (1 μm) and includes>34,000 amino acids within four functionally distinct segments. TTN-truncating variants (TTNtvs) are the most common genetic cause for dilated cardiomyopathy (DCM). |
Mutation | W976R |
Phenotype | Decreased contractility, sarcomere insufficiency |
Source | Cryopreserved T-cells |
Cellular Assays | Sarcomere content and length analysis (FFT), cardiac Microtissue (CMT) platform, microcontact printing, micro-post arrays (mPads), western blotting, tissue staining |
For Research Use Only. Not For Clinical Use.