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iPSc | WFS1 mutation
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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:

  •  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
  •   Exhibited normal proliferation
  •   Expressed pluripotent genes
Molecular markers

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.

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