NA01941
DNA from Fibroblast
Description:
TURNER SYNDROME
CHROMOSOME DELETION
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities
dbGaP |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Arm
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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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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Country of Origin
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USA
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Relation to Proband
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proband
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Confirmation
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Karyotypic analysis after cell line submission to CCR
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ISCN
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45,X[5]/46,X,idic(Y)(q12)[5].ish Xp11.1q11.1(DXZ1x1),Xq28(Z43206x1),idic(Y)(q12)(SRY+,DYZ3+,DYZ1 enh,Z43206-,DYZ3+,SRY+).arr Yp11.31(2840527-2962962)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 |
3 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| Cytogenetics |
Chromosome X: ANEUPLOID Aneuploid Segment (-)Xq11>Xqter |
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Chromosome X: DELETION Aneuploid Segment (-)Xq11>Xqter |
| Remarks |
Clinically affected; donor subject has mosaic turner syndrome (45,X/46,XY) with 44% of fibroblasts as 45,X; Turner syndrome phenotype; slow growing culture. |
| 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 |
| View |
FISH Texas Red detects XqYq(Z43206), FITC detects DYZ1, DAPI counterstain |
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FISH Texas Red detects XqYq(Z43206), FITC detects DYZ1, DAPI counterstain |
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FISH Texas Red detects XqYq(Z43206), FITC detects DYZ1, DAPI counterstain |
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FISH Spectrum Orange detects LSI SRY, Spectrum Green detects DXZ1, DAPI counterstain |
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FISH Spectrum Orange detects LSI SRY, Spectrum Green detects DXZ1, DAPI counterstain |
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FISH Spectrum Orange detects LSI SRY, Spectrum Green detects DXZ1, DAPI counterstain |
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FISH Spectrum Orange detects DYZ3, DAPI counterstain |
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FISH Spectrum Orange detects DYZ3, DAPI counterstain |
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FISH Spectrum Orange detects DYZ3, DAPI counterstain |
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karyotype Spectrum Orange detects DYZ3, DAPI counterstain |
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karyotype Spectrum Orange detects DYZ3, DAPI counterstain |
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karyotype Spectrum Orange detects DYZ3, DAPI counterstain |
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