Description:
TRANSLOCATED CHROMOSOME
Repository
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NIGMS Human Genetic Cell Repository
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Subcollection |
Chromosome Abnormalities |
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
|
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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46,XY,t(5;14)(5qter>5p14::14q21>14qter; 14pter>14q21::5p14>5pter)
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Species
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Homo sapiens
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Common Name
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Human
|
Remarks
|
|
Passage Frozen |
2 |
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IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
|
Cytogenetics |
Chromosome 14: TRANSLOCATION Breakpoint 14q21 t(5;14)14q21 |
|
Chromosome 5: TRANSLOCATION Breakpoint 5p14 t(5;14)5p14 |
Remarks |
Clinically normal with emotional and mental disturbance |
Sehgal PB, Zilberstein A, Ruggieri RM, May LT, Ferguson-Smith A, Slate DL, Revel M, Ruddle FH, Human chromosome 7 carries the beta 2 interferon gene. Proc Natl Acad Sci U S A83:5219-22 1986 |
PubMed ID: 3014537 |
|
Barker PE, Rabin M, Watson M, Breg WR, Ruddle FH, Verma IM, Human c-fos oncogene mapped within chromosomal region 14q21----q31. Proc Natl Acad Sci U S A81:5826-30 1984 |
PubMed ID: 6091112 |
|
Lidksy AS, Robson KJ, Thirumalachary C, Barker PE, Ruddle FH, Woo SL, The PKU locus in man is on chromosome 12. Am J Hum Genet36:527-33 1984 |
PubMed ID: 6547271 |
|
Maurer BJ, Barker PE, Masters JN, Ruddle FH, Attardi G, Human dihydrofolate reductase gene is located in chromosome 5 and is unlinked to the related pseudogenes. Proc Natl Acad Sci U S A81:1484-8 1984 |
PubMed ID: 6584893 |
|
Shulman LM, Barker PE, Hart JT, Messer Peters PG, Ruddle FH, Assignment of low-molecular-weight human (2', 5')A synthetase to chromosome 11. Somat Cell Mol Genet10:247-57 1984 |
PubMed ID: 6585970 |
|
Beaudet AL, Su TS, O'Brien WE, D'Eustachio P, Barker PE, Ruddle FH, Dispersion of argininosuccinate-synthetase-like human genes to multiple autosomes and the X chromosome. Cell30:287-93 1982 |
PubMed ID: 6897015 |
|
Peters PG, Kamarck ME, Hemler ME, Strominger JL, Ruddle FH, Genetic and biochemical characterization of a human surface determinant on somatic cell hybrids: the 4F2 antigen. Somatic Cell Genet8:825-34 1982 |
PubMed ID: 6187076 |
|
Schnitzer TJ, Weiss RA, Juricek DK, Ruddle FH, Use of vesicular stomatitis virus pseudotypes to map viral receptor genes: Assignment of RD114 virus receptor gene to human chromosome 19. J Virol35:575-80 1980 |
PubMed ID: 6255197 |
|
Meager A, Graves HE, Shuttleworth J, Zucker N, Interferon production: variation in yields from human cell lines. Infect Immun25:658-63 1979 |
PubMed ID: 489124 |
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Mellman IS, Lin PF, Ruddle FH, Rosenberg LE, Genetic control of cobalamin binding in normal and mutant cells: assignment of the gene for 5-methyltetrahydrofolate:L-homocysteine S- methyltransferase to human chromosome 1. Proc Natl Acad Sci U S A76:405-9 1979 |
PubMed ID: 284356 |
|
Slate DL, Ruddle FH, Fibroblast interferon in man is coded by two loci on separate chromosomes. Cell16:171-80 1979 |
PubMed ID: 84714 |
|
Borganonkar DS, Aronson MM, Greene AE, Coriell LL, A (5;14) translocation, 46 chromosomes. Repository identification No. GM-589. Cytogenet Cell Genet18:242 1977 |
PubMed ID: 872630 |
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Borgaonkar DS, Blair SM, Lutz JB, Kelly T, Tice RR, Delaney NV, Hutchinson JR, Bias WB, Cytogenetic study of a 5-14 translocation in man. J Hered64:299-300 1973 |
PubMed ID: 4782671 |
Passage Frozen |
2 |
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 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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