NA03273
DNA from Fibroblast
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 |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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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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Sample Source
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DNA from Fibroblast
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Race
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White
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Ethnicity
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SARDINIAN
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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,t(3;12)(p14;q15)[19]/46,XY[1].ish del(X)(p22.3p22.3)(STS-,DXZ1+).arr Xp22.31(6477901-8095645)x0,2q13(110206510-110340958)x1
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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 |
3 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis and by Chromosome Analysis |
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| 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. |
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| steryl-sulfatase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.1.6.2; <5% activity. |
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| Cytogenetics |
Chromosome X: DELETION Aneuploid Segment (-)Xp22>Xp22 |
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Chromosome X: DELETION Aneuploid Segment (-)Xp22>Xp22 |
| Remarks |
Sardinian; G6PD normal, Xg(a) negative; < 5% of normal fibroblast steroid sulfatase activity; normal arylsulfatase A and B activity; DNA does not hybridize STS-3 cDNA gene probe |
| 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 |
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| Conary JT, Lorkowski G, Schmidt B, Pohlmann R, Nagel G, Meyer HE, Krentler C, Cully J, Hasilik A, von Figura K, Genetic heterogeneity of steroid sulfatase deficiency revealed with cDNA for human steroid sulfatase. Biochem Biophys Res Commun144:1010-7 1987 |
| PubMed ID: 3034252 |
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