NA00119
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(17;22)(17qter>17p13::22q11> 22qter;22pter>22q11::17p13>17pter)
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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 17: TRANSLOCATION Breakpoint 17p13 t(17;22)17p13 |
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Chromosome 22: TRANSLOCATION Breakpoint 22q11 t(17;22)22q11 |
| Remarks |
Clinically normal |
| Spiteri E, Babcock M, Kashork CD, Wakui K, Gogineni S, Lewis DA, Williams KM, Minoshima S, Sasaki T, Shimizu N, Potocki L, Pulijaal V, Shanske A, Shaffer LG, Morrow BE, Frequent translocations occur between low copy repeats on chromosome 22q11.2 (LCR22s) and telomeric bands of partner chromosomes. Hum Mol Genet12(15):1823-37 2003 |
| PubMed ID: 12874103 |
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| McBride OW, Zmudzka BZ, Wilson SH, Chromosomal location of the human gene for DNA polymerase beta. Proc Natl Acad Sci U S A84:503-7 1987 |
| PubMed ID: 3467369 |
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| Haluska FG, Finver S, Tsujimoto Y, Croce CM, The t(8; 14) chromosomal translocation occurring in B-cell malignancies results from mistakes in V-D-J joining. Nature324:158-61 1986 |
| PubMed ID: 3097550 |
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| McBride OW, Merry D, Givol D, The gene for human p53 cellular tumor antigen is located on chromosome 17 short arm (17p13). Proc Natl Acad Sci U S A83:130-4 1986 |
| PubMed ID: 3001719 |
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| Macintyre MN, Hempel JM, Walden DB, Miller RC, Greene AE, Coriell LL, A (17;22) translocation, balanced, 46 chromosomes. Repository identification No. GM-119. Cytogenet Cell Genet14:80-1 1975 |
| PubMed ID: 1132250 |
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| Macintyre MN, Walden DB, Hempel JM, Tertiary trisomy in a human kindred containing an E/G translocation. Am J Hum Genet23:431-41 1971 |
| PubMed ID: 5092595 |
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