NA03322
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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parent
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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,X,t(X;11)(Xpter>Xq22::11q13>11qter; 11pter>11q13::Xq22>Xqter)
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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 |
7 |
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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 11: TRANSLOCATION Breakpoint 11q13 t(X;11)11q13 |
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Chromosome X: TRANSLOCATION Breakpoint Xq22 t(X;11)Xq22 |
| Remarks |
Phenotypically normal; normal menses; H-Y antigen negative; 3 offspring, 1 has the unbalanced translocation; normal X is late replicating |
| Carrel L, Willard HF, Heterogeneous gene expression from the inactive X chromosome: an X-linked gene that escapes X inactivation in some human cell lines but is inactivated in others. Proc Natl Acad Sci U S A96:7364-9 1999 |
| PubMed ID: 10377420 |
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| Kluve-Beckerman B, Naylor SL, Marshall A, Gardner JC, Shows TB, Benson MD, Localization of human SAA gene(s) to chromosome 11 and detection of DNA polymorphisms. Biochem Biophys Res Commun137:1196-204 1986 |
| PubMed ID: 3015139 |
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| Taggart RT, Mohandas TK, Shows TB, Bell GI, Variable numbers of pepsinogen genes are located in the centromeric region of human chromosome 11 and determine the high-frequency electrophoretic polymorphism. Proc Natl Acad Sci U S A82:6240-4 1985 |
| PubMed ID: 3862130 |
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| Naylor SL, Sakaguchi AY, Barker D, White R, Shows TB, DNA polymorphic loci mapped to human chromosomes 3, 5, 9, 11, 17, 18, and 22. Proc Natl Acad Sci U S A81:2447-51 1984 |
| PubMed ID: 6585809 |
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| Naylor SL, Sakaguchi AY, Shows TB, Grzeschik KH, Holmes M, Zasloff M, Two nonallelic tRNAiMet genes are located in the p23 leads to q12 region of human chromosome 6. Proc Natl Acad Sci U S A80:5027-31 1983 |
| PubMed ID: 6308668 |
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| Venta PJ, Shows TB, Curtis PJ, Tashian RE, Polymorphic gene for human carbonic anhydrase II: a molecular disease marker located on chromosome 8. Proc Natl Acad Sci U S A80:4437-40 1983 |
| PubMed ID: 6410391 |
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| Haseltine FP, Lynch VA, Van Dyke DL, Breg WR, Francke U, H-Y antigen expression in patients with X-autosomal translocations and gonadal dysgenesis. Am J Med Genet13:115-23 1982 |
| PubMed ID: 7137226 |
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| Koch GA, Schoen RC, Klebe RJ, Shows TB, Assignment of a fibronection gene to human chromosome 2 using monoclonal antibodies. Exp Cell Res141:293-302 1982 |
| PubMed ID: 6183132 |
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| Owerbach D, Bell GI, Rutter WJ, Brown JA, Shows TB, The insulin gene is located on the short arm of chromosome 11 in humans. Diabetes30:267-70 1981 |
| PubMed ID: 7009275 |
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| Owerbach D, Rutter WJ, Roberts JL, Whitfeld P, Shine J, Seeburg PH, Shows TB, The proopiocortin (adrenocorticotropin/beta-lipoprotein) gene is located on chromosome 2 in humans. Somatic Cell Genet7:359-69 1981 |
| PubMed ID: 7292253 |
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| Owerbach D, Rutter WJ, Shows TB, Gray P, Goeddel DV, Lawn RM, Leukocyte and fibroblast interferon genes are located on human chromosome 9. Proc Natl Acad Sci U S A78:3123-7 1980 |
| PubMed ID: 6166943 |
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| Barnabei VM, Wyandt HE, Kelly TE, A possible exception to the critical region hypothesis. Am J Hum Genet33:61-66 1979 |
| PubMed ID: 7468594 |
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