NA03847
DNA from Fibroblast
Description:
TRANSLOCATED CHROMOSOME
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 |
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
|
White
|
Relation to Proband
|
proband
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
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ISCN
|
46,XX,t(11;22)(11pter>11q23::22q11.2> 22qter;22pter>22q11.2::11q23>11qter)mat
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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 |
8 |
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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; mother has same translocation; neither shows any myeloproliferative disorder |
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 |
|
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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