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For Research Use Only. Not For Clinical Use.

STEMOD™ iPSC-derived POAG Disease Model (TBK1, Duplicate on chromosome 12q14)(MoOS-WQ001)

Datasheet

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. Primary open angle glaucoma 1P (GLC1P) is characterized by early onset, thin central corneas and low intraocular pressure.This disease cell model belongs to GLC1P, duplication of theTBK1 gene causes normal tension glaucoma. Generating pluripotent stem cells from dermal fibroblasts, then differentiate into THY1/CD90-positive neurons . 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 TBK1
Gene Function TBK1 gene is important regulators of autophagy and encodes a kinase that phosphorylates OPTN, which then recruits the microtubule-associated protein 1 light chain 3 beta (MAP1LC3B, LC3B) that is instrumental in assembling the autophagosome and initiating autophagy
Mutation Duplicate on chromosome 12q14
Phenotype Increased LC3-II and activated autophagy
Source Skin fibroblasts
Cellular Assays Whole-cell patch clamp techniques, immunohisto-chemistry
Target Gene
Gene ID 29110
Uniprot ID Q9UHD2

For Research Use Only. Not For Clinical Use.

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