Description:
MENKES SYNDROME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Metal Metabolism |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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White
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| Remarks |
Low serum copper and ceruloplasmin; fibroblasts exhibit increased accumulation of intracellular copper |
| Ho IC, Lee TC, Sodium arsenite enhances copper accumulation in human lung adenocarcinoma cells. Toxicol Sci47:176-80 1999 |
| PubMed ID: 10220854 |
| |
| Yamaguchi Y, Heiny ME, Suzuki M, Gitlin JD, Biochemical characterization and intracellular localization of the Menkes disease protein. Proc Natl Acad Sci U S A93:14030-5 1996 |
| PubMed ID: 8943055 |
| |
| Sato M, Hayashi A, Ito H, Tojo M, Arima M, [Copper level and metallothionein-like Cu-binding protein in cultured skin fibroblasts from patients with Menkes' disease and Wilson's disease] No To Shinkei36:1063-8 1984 |
| PubMed ID: 6525319 |
| Passage Frozen |
2 |
| 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 |
- |
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