Description:
TRANSLOCATED CHROMOSOME
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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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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,X,t(X;14)(Xpter>Xq13::14q32>14qter; 14pter>14q32::Xq13>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 |
5 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| Cytogenetics |
Chromosome 14: TRANSLOCATION Breakpoint 14q32 t(X;14)14q32 |
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Chromosome X: TRANSLOCATION Breakpoint Xq13 t(X;14)Xq13 |
| Remarks |
Phenotypically normal; has had 6 spontaneous abortions; normal X is late replicating; see GM10073A Lymphoid |
| 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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| Giacomo Consalez G, Gecz J, Stayton CL, Dabovic B, Pasini B, Pezzolo A, Bicocchi MP, Fontes M, Romeo G, Fine mapping and cloning of the breakpoint associated with Menkes syndrome in a female patient [published erratum appears in Genomics 1993 Apr;16(1):304] Genomics14:557-61 1992 |
| PubMed ID: 1427884 |
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| Olson S, Song BJ, Huh TL, Chi YT, Veech RL, McBride OW, Three genes for enzymes of the pyruvate dehydrogenase complex map to human chromosomes 3, 7, and X [published erratum appears in Am J Hum Genet 1990 Jun;46(6):1235] Am J Hum Genet46:340-9 1990 |
| PubMed ID: 1967901 |
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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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| Purrello M, Alhadeff B, Whittington E, Buckton KE, Daniel A, Arnaud P, Rocchi M, Archidiacono N, Filippi G, Siniscalco M, Comparison of cytologic and genetic distances between long arm subtelomeric markers of human autosome 14 suggests uneven distribution of crossing-over. Cytogenet Cell Genet44:32-40 1987 |
| PubMed ID: 3469062 |
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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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| Oberle I, Camerino G, Kloepfer C, Moisan JP, Grzeschik KH, Hellkuhl B, Hors-Cayla MC, Van Cong N, Weil D, Mandel JL, Characterization of a set of X-linked sequences and of a panel of somatic cell hybrids useful for the regional mapping of the human X chromosome. Hum Genet72:43-9 1986 |
| PubMed ID: 3002952 |
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| Dracopoli NC, Rettig WJ, Albino AP, Esposito D, Archidiacono N, Rocchi M, Siniscalco M, Old LJ, Genes controlling gp25/30 cell-surface molecules map to chromosomes X and Y and escape X-inactivation. Am J Hum Genet37:199-207 1985 |
| PubMed ID: 4038849 |
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| Balazs I, Purrello M, Rubinstein P, Alhadeff B, Siniscalco M, Highly polymorphic DNA site D14S1 maps to the region of Burkitt lymphoma translocation and is closely linked to the heavy chain gamma 1 immunoglobulin locus. Proc Natl Acad Sci U S A79:7395-9 1982 |
| PubMed ID: 6818543 |
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| Migeon BR, Brown TR, Axelman J, Migeon CJ, Studies of the locus for androgen receptor: localization on the human X chromosome and evidence for homology with the Tfm locus in the mouse. Proc Natl Acad Sci U S A78:6339-43 1981 |
| PubMed ID: 6947233 |
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| Tan YH, Creagan RP, Ruddle FH, The somatic cell genetics of human interferon: assignment of human interferon loci to chromosomes 2 and 5. Proc Natl Acad Sci U S A71:2251-5 1974 |
| PubMed ID: 4526303 |
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| Opitz J, Pallister PD, Ruddle FH, An (X;14) translocation, balanced, 46 chromosomes. Repository identification No. GM-73. Cytogenet Cell Genet12:289-90 1973 |
| PubMed ID: 4796242 |
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| Grzeschik KH, Allderdice PW, Grzeschik A, Opitz JM, Miller OJ, Siniscalco M, Cytological mapping of human X-linked genes by use of somatic cell hybrids involving an X-autosome translocation (mouse-hamster-human X- linked markers). Proc Natl Acad Sci U S A69:69-73 1972 |
| PubMed ID: 4500556 |
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| Ruddle FH, Chapman VM, Ricciuti F, Murnane M, Klebe R, Meera Khan P, Linkage relationships of seventeen human gene loci as determined by man- -mouse somatic cell hybrids. Nat New Biol232:69-73 1971 |
| PubMed ID: 5285340 |
| Passage Frozen |
5 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
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