Barth syndrome (BTHS), a mitochondrial disorder caused by mutation of the gene encoding tafazzin (TAZ). This disease cell model belongs to BTHS, a mutation (S110P) occur in the TAZ 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 | BTHS |
| Target Gene | TAZ |
| Gene Function | Tafazzin is a protein that in humans is encoded by the TAZ gene. Tafazzin is highly expressed in cardiac and skeletal muscle, and functions as a phospholipid-lysophospholipid transacylase. |
| Mutation | S110P |
| Phenotype | Increased ROS, irregular sarcomere assembly, impaired cardiolipin acetylation and mitochondrial dysfunction |
| Source | Fibroblasts |
| Cellular Assays | Immuofluorescence staining |
For Research Use Only. Not For Clinical Use.
