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 |
| Class |
Other Disorders of Known Biochemistry |
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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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Race
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Black/African American
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Family Member
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1
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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 |
6 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
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| Remarks |
In addition to adrenal hypoplasia pt has preauricular tags, pectus excavatum, cryptorchidism, progressive muscle weakness, & elevated CPK; 46,XY in fibroblast culture; positive family history; see GM10489 Lymphoid |
| dbSNP |
dbSNP ID: 17398 |
| 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 |
| Passage Frozen |
6 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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