Age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. This disease cell model has a mutation (g.5270G>T) occur in the ARSM2 gene. Generating pluripotent stem cells from dermal fibroblasts, then differentiate into RPEs. This disease cell model provides a platform to explore disease mechanisms in human genetic AMD.
Specifications | |
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Organ System | Ocular System |
Disease | Age-Related Macular Degeneration (AMD) |
Target Gene | ARMS2 |
Gene Function | ARMS2 gene encodes a small secreted protein specific to primates. This protein is a component of the choroidal extracellular matrix of the eye. |
Mutation | g.5270G> T (p.Ala69Ser) |
Phenotype | Decreased SOD2 defense, making RPE more susceptible to oxidative damage and thereby contributing to AMD pathogenesis. |
Source | Skin fibroblasts |
Cellular Assays | Whole-cell patch clamp techniques, immunohisto-chemistry, on-chip multi-electrode array system |
For Research Use Only. Not For Clinical Use.