NA01709
DNA from Fibroblast
Description:
DICENTRIC CHROMOSOME
GONADAL DYSGENESIS
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities
dbGaP |
| 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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Relation to Proband
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proband
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Confirmation
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Karyotypic analysis and Molecular characterization
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ISCN
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46,X,idic(Y)(p11.2).arr Xp22.33(108464-2704240)x1,Yp11.2q12(10367247-27209311)x2
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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 |
4 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| TESTIS DETERMINING LOCUS |
Muller et. al. (Nucleic Acids Res.14:6489,1986) reported that DNA from these fibroblasts did not hybridize Y-chromosome-specific DNA probes mapping near to the putative testis determining locus. |
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| Cytogenetics |
Chromosome Y: DICENTRIC CHROMOSOME Aneuploid Segment (+)Yp11>Yqter |
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Chromosome Y: DICENTRIC CHROMOSOME Aneuploid Segment (0)Ypter>Yp11 |
| Remarks |
Gonadal dysgenesis; 8 of 12 karyotypes have an additional t(1;5); biopsy of gonadal streak; DNA from fibroblasts does not hybridize Y-chromosome-specific DNA probes mapping near to the putative testis determining locus |
| 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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| Lau EC, Mohandas TK, Shapiro LJ, Slavkin HC, Snead ML, Human and mouse amelogenin gene loci are on the sex chromosomes. Genomics4:162-8 1989 |
| PubMed ID: 2737677 |
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| Muller U, Donlon T, Schmid M, Fitch N, Richer CL, Lalande M, Latt SA, Deletion mapping of the testis determining locus with DNA probes in 46,XX males and in 46,XY and 46,X,dic(Y) females. Nucleic Acids Res14:6489-505 1986 |
| PubMed ID: 3748818 |
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| Su TS, Nussbaum RL, Airhart S, Ledbetter DH, Mohandas T, O'Brien WE, Beaudet AL, Human chromosomal assignments for 14 argininosuccinate synthetase pseudogenes: cloned DNAs as reagents for cytogenetic analysis. Am J Hum Genet36:954-64 1984 |
| PubMed ID: 6093508 |
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