NA02814
DNA from Fibroblast
Description:
ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE; AEZ
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Disorders of Metal Metabolism |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
DNA from Fibroblast
|
|
Race
|
White
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Biochemical characterization - other
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
6 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| Remarks |
Low serum zinc concentration; clinically affected |
| Vazquez F, Grider A, The effect of the acrodermatitis enteropathica mutation on zinc uptake in human fibroblasts. Biol Trace Elem Res50:109-17 1995 |
| PubMed ID: 8605078 |
|
|