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
|
|
Ethnicity
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SARDINIAN
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Family Member
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2
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Relation to Proband
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mother
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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 del(X)(p22.3p22.3)(STS-,DXZ1+)
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Species
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Homo sapiens
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|
Common Name
|
Human
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|
Remarks
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|
| Passage Frozen |
5 |
| |
| FISH ANALYSES |
CCR FISH analysis with a probe for the steroid sulfatase gene at Xp22.3 showed one of the X chromosomes to be deleted for the steroid sulfatase gene for this X-linked ichthyosis heterozygote. |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis and by Chromosome Analysis |
| |
| Cytogenetics |
Chromosome X: DELETION Aneuploid Segment (-)Xp22>Xp22 |
| Remarks |
G6PD(B)/G6PD(med); normal Sterol sulfatase |
| Passage Frozen |
5 |
| 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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