Description:
MENKES SYNDROME
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Disorders of Metal Metabolism |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Race
|
White
|
|
Family Member
|
3
|
|
Relation to Proband
|
cousin
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Remarks |
Fibroblasts exhibit elevated Cu levels; 46,XY; abnormal metallothionein gene regulation in response to copper |
| Leone A, Pavlakis GN, Hamer DH, Menkes' disease: abnormal metallothionein gene regulation in response to copper. Cell40:301-9 1985 |
| PubMed ID: 3967294 |
| |
| LaBadie GU, Beratis NG, Price PM, Hirschhorn K, Studies of the copper-binding proteins in Menkes and normal cultured skin fibroblast lysates. J Cell Physiol106:173-8 1981 |
| PubMed ID: 6783668 |
| |
| Beratis NG, Price P, Labadie G, Hirschhorn K, 64Cu metabolism in Menkes and normal cultured skin fibroblasts. Pediatr Res12:699-702 1978 |
| PubMed ID: 673539 |
| |
| Chan WY, Garnica AD, Rennert OM, Cell culture studies of Menkes kinky hair disease. Clin Chim Acta88:495-507 1978 |
| PubMed ID: 699339 |
| |
| Goka TJ, Stevenson RE, Hefferan PM, Howell RR, Menkes disease: a biochemical abnormality in cultured human fibroblasts. Proc Natl Acad Sci U S A73:604-6 1976 |
| PubMed ID: 1061160 |
| Passage Frozen |
3 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
|
|