Description:
ADRENAL HYPOPLASIA, CONGENITAL; AHC
NUCLEAR RECEPTOR SUBFAMILY 0, GROUP B, MEMBER 1; NR0B1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Family History
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Y
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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ISCN
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46,XY.arr(1-22)x2,(XY)x1
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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Gene |
NR0B1 |
| Chromosomal Location |
Xp21.2 |
| Allelic Variant 1 |
; ADRENAL HYPOPLASIA, CONGENITAL |
| Identified Mutation |
c.754delC (p.Gln252fs) |
| Remarks |
Clinically affected; juvenile type; mutation 754(2344)delC in the DAX-1 gene; positive family history. |
| 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 |
| Gene Cards |
DAX1 |
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NR0B1 |
| Gene Ontology |
GO:0003700 transcription factor activity |
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GO:0003707 steroid hormone receptor activity |
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GO:0005634 nucleus |
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GO:0006355 regulation of transcription, DNA-dependent |
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GO:0006694 steroid biosynthesis |
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GO:0007530 sex determination |
| NCBI Gene |
Gene ID:190 |
| NCBI GTR |
300200 ADRENAL HYPOPLASIA, CONGENITAL; AHC |
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300473 NUCLEAR RECEPTOR SUBFAMILY 0, GROUP B, MEMBER 1; NR0B1 |
| OMIM |
300200 ADRENAL HYPOPLASIA, CONGENITAL; AHC |
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300473 NUCLEAR RECEPTOR SUBFAMILY 0, GROUP B, MEMBER 1; NR0B1 |
| Omim Description |
ADDISON DISEASE, X-LINKED; AHX |
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ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM |
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ADRENAL HYPOPLASIA, CONGENITAL; AHC |
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AHC WITH HHGCYTOMEGALIC ADRENOCORTICAL HYPOPLASIA, INCLUDED |
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AHC WITH ISOLATED GONADOTROPIN DEFICIENCY, INCLUDED |
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DOSAGE SENSITIVE SEX REVERSAL/ADRENAL HYPOPLASIA CONGENITA, X-LINKED1, INCLUDED |
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DSS-AHC CRITICAL REGION ON THE X CHROMOSOME, GENE 1, INCLUDED; DAX1,INCLUDED |
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