Left ventricular non-compaction (LVNC) is the third most prevalent cardiomyopathy in children and its pathogenesis has been associated with the developmental defect of the embryonic myocardium. This disease cell model belongs to ARVC, a mutation (T262M) occur in the TBX20 gene. Generating pluripotent stem cells from fibroblasts, 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 | LVNC |
| Target Gene | TBX20 |
| Gene Function | TBX20 regulates the expression of TGFβ signaling modifiers including a known genetic cause of LVNC, PRDM16, and genome editing of PRDM16 caused proliferation defects in iPSC-CMs. |
| Mutation | T262M |
| Phenotype | Reduced proliferative capacity, upregulation of genes in TGFβ pathway |
| Source | Fibroblasts |
| Cellular Assays | Whole-cell patch clamp technique, luciferase assay, immunocytochemistry staining, EdU-based proliferation analysis, immunohistochemistry staining, calcium imaging |
For Research Use Only. Not For Clinical Use.
