NA00048
DNA from Fibroblast
Description:
46,XY SEX REVERSAL 1; SRXY1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Gonadal Dysgenesis |
| Quantity |
50 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Gonad
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Cell Type
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Fibroblast
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Tissue Type
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Gonad
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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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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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Clinical summary/Case history
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ISCN
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46,XY
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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 |
7 |
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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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| TESTIS DETERMINING LOCUS |
Verga and Erickson (Am J Hum Genet 44:756-765,1989) used pulsed-field gel electrophoresis (PFGE) to study the short arm of the Y chromosome by using a pseudoautosomal probe (MIC2Y) and adjacent Y-specific sequences 27a and 47z (DSXY5) in XX males and XY females. In addition, the authors utilized the probe pDP1007 which was cloned from the putative sex-determining locus on the Y chromosome (ZFY). This culture, from an XY female, had all the expected Y-specific sequences, especially the putative TDF clone and showed no altered PFGE fragments. |
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| Remarks |
46,XY; right gonadal tissue, ? H-Y antigen; same patient as GM00083; positive for TDF gene sequences (ZFY) |
| Vidal-Donet JM, Cárcel-Trullols J, Casanova B, Aguado C, Knecht E, Alterations in ROS Activity and Lysosomal pH Account for Distinct Patterns of Macroautophagy in LINCL and JNCL Fibroblasts PloS one8:e55526 2012 |
| PubMed ID: 23408996 |
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| Verga V, Erickson RP, An extended long-range restriction map of the human sex-determining region on Yp, including ZFY, finds marked homology on Xp and no detectable Y sequences in an XX male. Am J Hum Genet44:756-65 1989 |
| PubMed ID: 2705458 |
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