GM25222
LCL from B-Lymphocyte
Description:
ADRENAL HYPOPLASIA, CONGENITAL; AHC
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities |
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Cell Type
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B-Lymphocyte
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Transformant
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Epstein-Barr Virus
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Sample Source
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LCL from B-Lymphocyte
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Race
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White
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Country of Origin
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USA
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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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Biochemical characterization before cell line submission to CCR
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ISCN
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46,XY.arr[hg19](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 |
; |
| Identified Mutation |
673-4161inv3488 |
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| Gene |
NR0B1 |
| Chromosomal Location |
Xp21.2 |
| Allelic Variant 1 |
; |
| Identified Mutation |
4162-4164delCTT |
| Remarks |
Clinically affected; infantile type; subject deceased at time of collection; symptom onset at <12 days old; diagnosis at 25 months of age; adrenal insufficiency; mutations of NR0B1(DAX-1) gene include: 673-4161inv3488 and 4162-4164delCTT; family history includes brother who died at 18 hours in which autopsy revealed no adrenal tissue (not in repository). |
| Gene Cards |
DAX1 |
| NCBI GTR |
300200 ADRENAL HYPOPLASIA, CONGENITAL; AHC |
| OMIM |
300200 ADRENAL HYPOPLASIA, CONGENITAL; AHC |
| 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 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
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