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iPS CELLS WITH MUTATION IN WFS1 GENE
DESCRIPTION
Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), is a rare genetic disorder, causing diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders. Wolfram syndrome is caused by mutations in the WFS1 gene.
The hallmark features of Wolfram syndrome are:
The hallmark features of Wolfram syndrome are:
- high blood sugar levels resulting from a shortage of the hormone insulin (diabetes mellitus)
- progressive vision loss due to degeneration of the nerves that carry information from
the eyes to the brain (optic atrophy) - pituitary gland dysfunction that results in the excretion of excessive amounts of urine
(diabetes insipidus) - hearing loss caused by changes in the inner ear (sensorineural deafness)
- urinary tract problems
- reduced amounts of the sex hormone testosterone in males (hypogonadism)
- neurological or psychiatric disorders
Key hallmarks of iPSc with mutation in WFS1 gene
Generated from cells from patients with Wolfram syndrome
Generated from cells from patients with Wolfram syndrome
- Exhibited normal proliferation
- Expressed pluripotent genes
Molecular markers
TRA1-60 and TRA1-80
TRA1-60 and TRA1-80
Description
Celther Cat. No.:
CLTH/DIDMOAD - iPSc
CL 05013-CLTH
APPLICATIONS
Study mutation in WFS1 gene
SPECIFICATIONS
General Specifications
Form:
Cryopreserved
Format:
Vial(s)
Species:
Human
Quantity:
1 vial
Cell Type:
Human iPSc derivative, cells generated from cells from patients with Wolfram Syndrome
Culture Type:
Adherent Cell Culture
Donor Source:
Single Donor
Product Size:
1 mL
Number of Cells:
1x106
Tests Performed:
Sterility Testing (Bacteria & Fungi)
Regulatory Statement:
For Research Use Only. Not for use in diagnostic procedures.