Description:
ICHTHYOSIS, X-LINKED
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Heritable Diseases Chromosome Abnormalities dbGaP |
Class |
X Chromosome Markers |
Cell Type
|
Fibroblast
|
Transformant
|
Untransformed
|
Race
|
White
|
Ethnicity
|
SARDINIAN
|
Family Member
|
1
|
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(6477901-6743904)x0
|
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 |
Sterol sulfatase deficiency; normal RBC G6PD; Xg(a) antigen positive; see GM09852 (SV40 Transformed Fibroblast) |
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 |
|
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 |
|
Chang PL, Gunby JL, Tomkins DJ, Mak I, Rosa NE, Mak S, Transformation of human cultured fibroblasts with plasmids carrying dominant selection markers and immortalizing potential. Exp Cell Res167:407-16 1986 |
PubMed ID: 3021482 |
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 |
- |
|
|