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NA23908 DNA from LCL

Description:

ADRENAL HYPOPLASIA, CONGENITAL; AHC
NUCLEAR RECEPTOR SUBFAMILY 0, GROUP B, MEMBER 1; NR0B1

Affected:

Yes

Sex:

Male

Age:

5 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Chromosome Abnormalities
Quantity 25 µg
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source DNA from LCL
Family History Y
Relation to Proband proband
Confirmation Molecular characterization before cell line submission to CCR
ISCN 46,XY.arr(1-22)x2,(XY)x1
Species Homo sapiens
Common Name Human
Remarks Clinically affected; juvenile type; mutation 754(2344)delC in the DAX-1 gene; positive family history.

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by LINE assay
 
Gene NR0B1
Chromosomal Location Xp21.2
Allelic Variant 1 ; ADRENAL HYPOPLASIA, CONGENITAL
Identified Mutation c.754delC (p.Gln252fs)

Phenotypic Data

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Remarks Clinically affected; juvenile type; mutation 754(2344)delC in the DAX-1 gene; positive family history.

Publications

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Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013
PubMed ID: 23665875

External Links

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Gene Cards DAX1
NR0B1
Gene Ontology GO:0003700 transcription factor activity
GO:0003707 steroid hormone receptor activity
GO:0005634 nucleus
GO:0006355 regulation of transcription, DNA-dependent
GO:0006694 steroid biosynthesis
GO:0007530 sex determination
NCBI Gene Gene ID:190
NCBI GTR 300200 ADRENAL HYPOPLASIA, CONGENITAL; AHC
300473 NUCLEAR RECEPTOR SUBFAMILY 0, GROUP B, MEMBER 1; NR0B1
OMIM 300200 ADRENAL HYPOPLASIA, CONGENITAL; AHC
300473 NUCLEAR RECEPTOR SUBFAMILY 0, GROUP B, MEMBER 1; NR0B1
Omim Description ADDISON DISEASE, X-LINKED; AHX
  ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM
  ADRENAL HYPOPLASIA, CONGENITAL; AHC
  AHC WITH HHGCYTOMEGALIC ADRENOCORTICAL HYPOPLASIA, INCLUDED
  AHC WITH ISOLATED GONADOTROPIN DEFICIENCY, INCLUDED
  DOSAGE SENSITIVE SEX REVERSAL/ADRENAL HYPOPLASIA CONGENITA, X-LINKED1, INCLUDED
  DSS-AHC CRITICAL REGION ON THE X CHROMOSOME, GENE 1, INCLUDED; DAX1,INCLUDED
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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How to Order
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Same Subject
  • GM23908 - B-Lymphocyte
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