Description:
GLUCOCORTICOID RESISTANCE, GENERALIZED; GCCR
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Heritable Diseases |
Class |
Disorders of Steroid Metabolism |
Cell Type
|
Fibroblast
|
Transformant
|
Untransformed
|
Race
|
White
|
Ethnicity
|
DUTCH
|
Family Member
|
2
|
Relation to Proband
|
son
|
Confirmation
|
Clinical summary/Case history
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
Passage Frozen |
8 |
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
|
Remarks |
Dutch; elevated plasma & urinary free cortisol without Cushing's disease; no clinical manifestations; normal number but decreased affinity of fibroblast receptors for cytosol |
Chrousos GP, Vingerhoeds AC, Loriaux DL, Lipsett MB, Primary cortisol resistance: a family study. J Clin Endocrinol Metab56:1243-5 1983 |
PubMed ID: 6841559 |
|
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 |
Passage Frozen |
8 |
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 |
- |
|
|