POAG is characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place. This disease cell model belongs to POAG's subtype Glaucoma 1, open angle, E (GLC1E), mutation in E50K occurs in OPTN gene. Generating pluripotent stem cells from dermal fibroblasts, then differentiate into retinal ganglion cells (RGCs). This disease cell model provides a platform to explore disease mechanisms in human glaucoma.
| Specifications | |
|---|---|
| Organ System | Ocular System |
| Disease | Primary Open Angle Glaucoma (POAG) |
| Target Gene | OPTN |
| Gene Function | OPTN encodes the coiled-coil containing protein optineurin. Optineurin may play a role in normal-tension glaucoma and adult-onset primary open angle glaucoma. |
| Mutation | E50K |
| Phenotype | Selectively promotes cell death of retinal ganglion cells |
| Source | Foreskin fibroblast cells |
| Cellular Assays | Whole-cell patch clamp techniques |
For Research Use Only. Not For Clinical Use.
