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GM00589 Fibroblast

Description:

TRANSLOCATED CHROMOSOME

Affected:

No Data

Sex:

Male

Age:

18 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Culture Protocols

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Chromosome Abnormalities
Cell Type Fibroblast
Transformant Untransformed
Race White
Relation to Proband proband
Confirmation Karyotypic analysis after cell line submission to CCR
ISCN 46,XY,t(5;14)(5qter>5p14::14q21>14qter; 14pter>14q21::5p14>5pter)
Species Homo sapiens
Common Name Human
Remarks Clinically normal with emotional and mental disturbance

Characterizations

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Passage Frozen 2
 
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

Phenotypic Data

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Remarks Clinically normal with emotional and mental disturbance

Publications

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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
 
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
 
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

External Links

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dbSNP dbSNP ID: 18591

Culture Protocols

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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 -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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