NA03291
DNA from Fibroblast
Description:
ICHTHYOSIS, X-LINKED
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Chromosome Abnormalities
dbGaP |
| Class |
X Chromosome Markers |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
DNA from Fibroblast
|
|
Race
|
White
|
|
Ethnicity
|
SARDINIAN
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Karyotypic analysis and In situ hybridization
|
|
ISCN
|
46,XY.ish del(X)(p22.3p22.3)(STS-,DXZ1+).arr Xp22.31(6477901-8095645)x0
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| 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 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 |
| Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013 |
| PubMed ID: 23665875 |
|
|