GM02935
Fibroblast from Skin, Labialscrotal fold
Description:
PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS; PPSH
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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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Biopsy Source
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Labialscrotal fold
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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Fibroblast from Skin, Labialscrotal fold
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Race
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White
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Ethnicity
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ARABIAN
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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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ISCN
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46,XY
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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 |
9 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| Remarks |
Arab; skin biopsy (labialscrotal fold); similarly affected sister; parents are 1st cous; elevated blood testosterone/ dihydrotestosterone ratio; 46,XY in leukocytes and fibroblasts; presumed 5-alpha reductase deficiency |
| Okon E, Livni N, Rosler A, Yorkoni S, Segal S, Kohn G, Schenker JG, Male pseudohermaphroditism due to 5 alpha-reductase deficiency. Ultrastructure of the gonads. Arch Pathol Lab Med104:363-7 1980 |
| PubMed ID: 6772137 |
| Passage Frozen |
9 |
| Split Ratio |
1:4 |
| 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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