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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Molecular characterization after cell line submission to CCR
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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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| Passage Frozen |
6 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
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| Remarks |
Fibroblasts exhibit elevated Cu levels; positive family history; similarly affected brother and cousin; abnormal metallothionein gene regulation in response to copper; culture shows qualitative changes in Mc1 mRNA |
| Ho IC, Lee TC, Sodium arsenite enhances copper accumulation in human lung adenocarcinoma cells. Toxicol Sci47:176-80 1999 |
| PubMed ID: 10220854 |
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| 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 |
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| Vulpe C, Levinson B, Whitney S, Packman S, Gitschier J, Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase [published erratum appears in Nat Genet 1993 Mar;3(3):273] [see comments] Nat Genet3:7-13 1993 |
| PubMed ID: 8490659 |
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| Leone A, Pavlakis GN, Hamer DH, Menkes' disease: abnormal metallothionein gene regulation in response to copper. Cell40:301-9 1985 |
| PubMed ID: 3967294 |
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| 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 |
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| 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 |
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| Chan WY, Garnica AD, Rennert OM, Cell culture studies of Menkes kinky hair disease. Clin Chim Acta88:495-507 1978 |
| PubMed ID: 699339 |
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| 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 |
6 |
| Split Ratio |
1:6 |
| 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 |
10% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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