NA04403
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 |
10 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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Family Member
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2
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Relation to Proband
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mother
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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(11;22)(11pter>11q23::22q11> 22qter;22pter>22q11::11q23>11qter)
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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 Chromosome Analysis |
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| Cytogenetics |
Chromosome 11: TRANSLOCATION Breakpoint 11q23 t(11;22)11q23 |
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Chromosome 22: TRANSLOCATION Breakpoint 22q11 t(11;22)22q11 |
| Remarks |
Clinically normal |
| Edelmann L, Spiteri E, Koren K, Pulijaal V, Bialer MG, Shanske A, Goldberg R, Morrow BE, AT-Rich Palindromes Mediate the Constitutional t(11;22) Translocation. Am J Hum Genet68(1):1-13 2001 |
| PubMed ID: 11095996 |
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| Edelmann L, Spiteri E, McCain N, Goldberg R, Pandita RK, Duong S, Fox J, Blumenthal D, Lalani SR, Shaffer LG, Morrow BE, A common breakpoint on 11q23 in carriers of the constitutional t(11;22) translocation. Am J Hum Genet65(6):1608-16 1999 |
| PubMed ID: 10577914 |
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| Funke B, Edelmann L, McCain N, Pandita RK, Ferreira J, Merscher S, Zohouri M,
Cannizzaro L, Shanske A, Morrow BE, Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a
1.5-Mb region of overlap on chromosome 22q11. Am J Hum Genet64(3):747-58 1999 |
| PubMed ID: 10053009 |
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| Rosen N, Bolen JB, Schwartz AM, Cohen P, DeSeau V, Israel MA, Analysis of pp60c-src protein kinase activity in human tumor cell lines and tissues. J Biol Chem261:13754-9 1986 |
| PubMed ID: 3093483 |
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