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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Clinical summary/Case history
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ISCN
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46,XY,t(1;15)(1pter>1q44::15q11.1>15qter;15pter>15q11.1::1q44>1qter).ish del(X)(STS-),t(1;15)(D1S3738-,D15S11+,D15Z-;D1S3738+,D15S11-,D15Z+)
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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 |
| |
| steryl-sulfatase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.1.6.2 |
| |
| Cytogenetics |
Chromosome 1: TRANSLOCATION Breakpoint 1q44 t(1;15)1q44 |
|
Chromosome 15: TRANSLOCATION Breakpoint 15q11 t(1;15)15q11 |
| Remarks |
Sardinian; G6PD normal, Xg(a) positive; sterol sulfatase deficient |
| 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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