NA03547
DNA from Fibroblast
Description:
PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA
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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 |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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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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Sample Source
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DNA from Fibroblast
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Race
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White
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Ethnicity
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ARABIAN
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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 |
5 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| Remarks |
Arab; 46,XY; ambiguous genitalia, virilized at puberty; similarly affected sister; parents are first cousins |
| NCBI GTR |
264300 17-BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY |
| OMIM |
264300 17-BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY |
| Omim Description |
17-@KETOSTEROID REDUCTASE DEFICIENCY OF TESTIS |
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17-@KSR DEFICIENCY |
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ESTRADIOL 17-BETA-DEHYDROGENASE; EDH17B3, INCLUDED |
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NEUTRAL 17-BETA-HYDROXYSTEROID OXIDOREDUCTASE DEFICIENCY17-@BETA HYDROXYSTEROID DEHYDROGENASE 3; HSD17B3, INCLUDED |
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POLYCYSTIC OVARIAN DISEASE DUE TO 17-KETOSTEROID REDUCTASE DEFICIENCY,INCLUDED |
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PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA |
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TESTICULAR 17-@BETA-HYDROXYSTEROID DEHYDROGENASE III; 17-@BETA-HSDIII, INCLUDED |
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