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 (N22577fs) 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 | |
|---|---|
| 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 | N22577fs |
| 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.
