Description:
GLUCOCORTICOID RESISTANCE, GENERALIZED; GCCR
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Steroid 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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Ethnicity
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DUTCH
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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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| Passage Frozen |
7 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
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| Remarks |
Dutch; elevated plasma & urinary free cortisol without Cushing's disease; hypertension; hypokalemia; normal number but decreased affinity of fibroblast receptors for cytosol; positive family history |
| Chrousos GP, Vingerhoeds AC, Loriaux DL, Lipsett MB, Primary cortisol resistance: a family study. J Clin Endocrinol Metab56:1243-5 1983 |
| PubMed ID: 6841559 |
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| Chrousos GP, Vingerhoeds A, Brandon D, Eil C, Pugeat M, DeVroede M, Loriaux DL, Lipsett MB, Primary cortisol resistance in man. A glucocorticoid receptor-mediated disease. J Clin Invest69:1261-9 1982 |
| PubMed ID: 6282933 |
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| Vingerhoeds AC, Thijssen JH, Schwarz F, Spontaneous hypercortisolism without Cushing's syndrome. J Clin Endocrinol Metab43:1128-33 1976 |
| PubMed ID: 186477 |
| Passage Frozen |
7 |
| Split Ratio |
1:2 |
| 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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