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
dbGaP |
| 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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Family Member
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1
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Relation to Proband
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proband
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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,XY.ish del(X)(p22.3p22.3)(STS-,DXZ1+).arr Xp22.31(6477901-6743904)x0
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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 |
2 |
| |
| 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. |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
| |
| 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 |
- |
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