NA00213
DNA from Fibroblast
Description:
TRANSLOCATED CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities |
| Quantity |
50 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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Relation to Proband
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parent
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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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46,XY,t(8;12)(8qter>8p23::12p11>12pter; 12qter>12p11::8p23>8pter)
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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 |
5 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| Cytogenetics |
Chromosome 12: TRANSLOCATION Breakpoint 12p11 t(8;12)12p11 |
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Chromosome 8: TRANSLOCATION Breakpoint 8p23 t(8;12)8p23 |
| Remarks |
Clinically normal; son has clinical features resembling Down syndrome |
| Lin CC, Uchida I, Hotz H, Miller RC, Greene AE, Coriell LL, An (8;12) translocation, balanced, 46 chromosomes. Repository identification No. GM-213. Cytogenet Cell Genet14:78-9 1975 |
| PubMed ID: 124242 |
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