Description:
ANEUPLOID CHROMOSOME NUMBER - TRISOMY
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities |
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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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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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47,XY,+der(22)(22pter>22q11:: 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: DERIVATIVE CHROMOSOME Aneuploid Segment (+)11q23>11qter |
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Chromosome 11: DERIVATIVE CHROMOSOME Trisomic Segment 11q23>11qter |
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Chromosome 22: DERIVATIVE CHROMOSOME Aneuploid Segment (+)22pter>22q11 |
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Chromosome 22: DERIVATIVE CHROMOSOME Trisomic Segment 22pter>22q11 |
| Remarks |
Multiple congenital anomalies |
| 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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| Rovigatti U, Watson DK, Yunis JJ, Amplification and rearrangement of Hu-ets-1 in leukemia and lymphoma with involvement of 11q23. Science232:398-400 1986 |
| PubMed ID: 3457468 |
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| Schuchman EH, Astrin KH, Aula P, Desnick RJ, Regional assignment of the structural gene for human alpha-L- iduronidase. Proc Natl Acad Sci U S A81:1169-73 1984 |
| PubMed ID: 6422468 |
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| Nove J, Nichols WW, Weichselbaum RR, Little JB, Abnormalities of human chromosome 13 and in vitro radiosensitivity; a study of 19 fibroblast strains. Mutat Res84:157-67 1981 |
| PubMed ID: 7329430 |
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| Weichselbaum RR, Nove J, Little JB, X-ray sensitivity of fifty-three human diploid fibroblast cell strains from patients with characterized genetic disorders. Cancer Res40:920-5 1980 |
| PubMed ID: 7471105 |
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| Zackai EH, Emanuel BS, Site-specific reciprocal translocation, t(11;22) (q23;q11), in several unrelated families with 3:1 meiotic disjunction. Am J Med Genet7:507-21 1980 |
| PubMed ID: 7211960 |
| Passage Frozen |
8 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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