Description:
ICHTHYOSIS, X-LINKED
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities |
| Class |
X Chromosome Markers |
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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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White
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|
Ethnicity
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SARDINIAN
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Relation to Proband
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proband
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Confirmation
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Karyotypic analysis and In situ hybridization
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ISCN
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46,XX.ish X(STSx2,DXZ1x2)
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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 |
3 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis and by Chromosome Analysis |
| |
| FISH ANALYSES |
CCR FISH analysis with a probe for the steroid sulfatase gene at Xp22.3 showed that no deletion of the steroid sulfatase gene was present on either X chromosome for this X-linked ichthyosis heterozygote. |
| |
| Remarks |
Sardinian; G6PD(med), Xg(a)-/ G6PD(B), Xg(a)+; normal sterol sulfatase; FISH analysis with steroid sulfatase gene probe showed that neither X chromosome was deleted |
| Passage Frozen |
3 |
| Split Ratio |
1:5 |
| 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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