Description:
ICHTHYOSIS, X-LINKED
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Chromosome Abnormalities |
| Class |
X Chromosome Markers |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Race
|
White
|
|
Ethnicity
|
SARDINIAN
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Karyotypic analysis and In situ hybridization
|
|
ISCN
|
46,XY.ish del(X)(pter>p22.3::p22.3>qter)(STS-,DXZ1+)
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
2 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
| |
| 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 subject. |
| |
| steryl-sulfatase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.1.6.2 |
| |
| Cytogenetics |
Chromosome X: DELETION Aneuploid Segment (-)Xp22>Xp22 |
| Remarks |
Sardinian; G6PD normal, Xg(a) positive; sterol sulfatase deficient |
| Chang PL, Mueller OT, Lafrenie RM, Varey PA, Rosa NE, Davidson RG, Henry WM, Shows TB, The human arylsulfatase-C isoenzymes: two distinct genes that escape from X inactivation. Am J Hum Genet46:729-37 1990 |
| PubMed ID: 1690506 |
| |
| Simard JP, Ameen M, Chang PL, Biochemical characterization of arylsulfatase-C isozymes in human fibroblasts. Biochem Biophys Res Commun128:1388-94 1985 |
| PubMed ID: 3859293 |
| |
| Chance PF, Gartler SM, Evidence for a dosage effect at the X-linked steroid sulfatase locus in human tissues. Am J Hum Genet35:234-40 1983 |
| PubMed ID: 6573129 |
| Passage Frozen |
2 |
| 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 |
- |
|
|