Description:
TRANSLOCATED CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities
dbGaP |
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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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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,X,del(Y)(q12),der(8)t(Y;8)(q12;p23).ish del(Y)(q12)(Z43206+,D8S2333-),der(8)t(Y;8)(Z43206+,D8S2333-).arr 8p23.3p23.1(151221-7973253)x1,8p23.1p22(12551429-17139013)x3
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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, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
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| Cytogenetics |
Chromosome 8: TRANSLOCATION Breakpoint 8p23 t(Y;8)8p23 |
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Chromosome Y: TRANSLOCATION Breakpoint Yq11 t(Y;8)Yq11 |
| Remarks |
Mental retardation; multiple metabolic problems; cannot determine cytogenetically if translocation is balanced or unbalanced |
| 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 8pter(D8S2333), DAPI counterstain |
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FISH Texas Red detects XqYq(Z43206), FITC detects 8pter(D8S2333), DAPI counterstain |
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karyotype Texas Red detects XqYq(Z43206), FITC detects 8pter(D8S2333), DAPI counterstain |
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karyotype Texas Red detects XqYq(Z43206), FITC detects 8pter(D8S2333), DAPI counterstain |
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karyotype Texas Red detects XqYq(Z43206), FITC detects 8pter(D8S2333), DAPI counterstain |
| Passage Frozen |
3 |
| 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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