NA07457
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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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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46,XX,t(1;21)(1pter>1q12::21q22.3> 21qter;21pter>21q22.3::1q12>1qter)
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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 Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
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| Cytogenetics |
Chromosome 1: TRANSLOCATION Breakpoint 1q12 t(1;21)1q12 |
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Chromosome 21: TRANSLOCATION Breakpoint 21q22 t(1;21)21q22 |
| Remarks |
Healthy; has had two consecutive miscarriages at the 12th week of gestation |
| Schindler D, Haaf T, Schmid M, 5-Azacytidine treatments in the characterization of a t(1;21)(q12;q22) carrier karyotype. Clin Genet27:72-7 1985 |
| PubMed ID: 2579751 |
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| Schmid M, Haaf T, Grunert D, 5-Azacytidine-induced undercondensations in human chromosomes. Hum Genet67:257-63 1984 |
| PubMed ID: 6205969 |
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