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NA03547 DNA from Fibroblast

Description:

PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA

Affected:

Yes

Sex:

Female

Age:

15 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • External Links

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Disorders of Steroid Metabolism
Quantity 10 µg
Quantitation Method Please see our FAQ
Cell Type Fibroblast
Transformant Untransformed
Sample Source DNA from Fibroblast
Race White
Ethnicity ARABIAN
Relation to Proband proband
Confirmation Clinical summary/Case history
ISCN 46,XY
Species Homo sapiens
Common Name Human
Remarks Arab; 46,XY; ambiguous genitalia, virilized at puberty; similarly affected sister; parents are first cousins

Characterizations

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Passage Frozen 5
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Chromosome Analysis
 

Phenotypic Data

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Remarks Arab; 46,XY; ambiguous genitalia, virilized at puberty; similarly affected sister; parents are first cousins

External Links

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dbSNP dbSNP ID: 15498
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
  17-@KSR DEFICIENCY
  ESTRADIOL 17-BETA-DEHYDROGENASE; EDH17B3, INCLUDED
  NEUTRAL 17-BETA-HYDROXYSTEROID OXIDOREDUCTASE DEFICIENCY17-@BETA HYDROXYSTEROID DEHYDROGENASE 3; HSD17B3, INCLUDED
  POLYCYSTIC OVARIAN DISEASE DUE TO 17-KETOSTEROID REDUCTASE DEFICIENCY,INCLUDED
  PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA
  TESTICULAR 17-@BETA-HYDROXYSTEROID DEHYDROGENASE III; 17-@BETA-HSDIII, INCLUDED
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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  • GM03547 - Fibroblast
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