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NA14849 DNA from Somatic cell hybrid

Description:

CHROMOSOME 1 REGIONAL MAPPING PANEL SOMATIC CELL HYBRIDS
ADDITIONAL DELETION/DERIVATIVE X CHROMOSOME SOMATIC CELL HYBRIDS

Affected:

No Data

Sex:

No Data

Age:

No Data

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

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Hybrids
Quantity 0.050mg
Quantitation Method Please see our FAQ
Cell Type Somatic cell hybrid
Transformant Untransformed
Sample Source DNA from Somatic cell hybrid
Confirmation Clinical summary/Case history
ISCN Human/mouse hybrid retaining a human der(1)t(X;1)(q26;q12) in 56% of cells and other human chromosomes
Remarks Line XOL-6; produced by fusing human fibro, GM00097, a Simpson Dysmorphia syndrome patient, with LMTK- mouse cells; grown in HAT medium; 56% of cells retain a human der(1)t(X;1)(q26;q12) & other human chromosomes

Characterizations

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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
 
GENE MAPPING & DOSAGE STUDIES - X CHROMOSOME PCR analysis of DNA from this somatic cell hybrid gave negative results with primers for Xp11.3, DXS1003, Xq26, HPRT, Xq13.3, PGK1, and Xq28, G6PD.
 
GENE MAPPING & DOSAGE STUDIES - CHROMOSOME 1 PCR analysis of DNA from this somatic cell hybrid gave a positive result with a primer for 1p36.2, TNFR2, and gave negative results with primers for 1p13, NGFB, 1q32, REN, and 1q44, SV-1_2004.
 
GENE MAPPING & DOSAGE STUDIES - CHROMOSOME 11 PCR analysis of DNA from this somatic cell hybrid gave negative results with primers for 11p13, CAT, and 11q21-q22, CLG.
 
GENE MAPPING & DOSAGE STUDIES - CHROMOSOME 12 PCR analysis of DNA from this somatic cell hybrid gave a negative result with a primer for 12p13.3-p13.2, F8VWF, and gave positive results with primers for 12q22-q24.2, PAH, 12q24-qter, D12S392, and 12q13.1, WI-7872.
 

Phenotypic Data

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Remarks Line XOL-6; produced by fusing human fibro, GM00097, a Simpson Dysmorphia syndrome patient, with LMTK- mouse cells; grown in HAT medium; 56% of cells retain a human der(1)t(X;1)(q26;q12) & other human chromosomes

Publications

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Mahnke-Zizelman DK, Eddy R, Shows TB, Sabina RL, Characterization of the human AMPD3 gene reveals that 5' exon useage is subject to transcriptional control by three tandem promoters and alternative splicing. Biochim Biophys Acta1306:75-92 1996
PubMed ID: 8611627
 
Maki RG, Eddy RL Jr, Byers M, Shows TB, Srivastava PK, Mapping of the genes for human endoplasmic reticular heat shock protein gp96/grp94. Somat Cell Mol Genet19:73-81 1993
PubMed ID: 8460400
 
Hautala T, Byers MG, Eddy RL, Shows TB, Kivirikko KI, Myllyla R, Cloning of human lysyl hydroxylase: complete cDNA-derived amino acid sequence and assignment of the gene (PLOD) to chromosome 1p36.3---- p36.2. Genomics13:62-9 1992
PubMed ID: 1577494
 
Bloch KD, Hong CC, Eddy RL, Shows TB, Quertermous T, cDNA cloning and chromosomal assignment of the endothelin 2 gene: vasoactive intestinal contractor peptide is rat endothelin 2. Genomics10:236-42 1991
PubMed ID: 1840558
 
Collins T, Williams A, Johnston GI, Kim J, Eddy R, Shows T, Gimbrone MA Jr, Bevilacqua MP, Structure and chromosomal location of the gene for endothelial- leukocyte adhesion molecule 1. J Biol Chem266:2466-73 1991
PubMed ID: 1703529
 
Kallunki P, Eddy RL, Byers MG, Kestila M, Shows TB, Tryggvason K, Cloning of human heparan sulfate proteoglycan core protein, assignment of the gene (HSPG2) to 1p36.1----p35 and identification of a BamHI restriction fragment length polymorphism. Genomics11:389-96 1991
PubMed ID: 1685141
 
Lau KS, Eddy RL, Shows TB, Fisher CW, Chuang DT, Cox RP, Localization of the dihydrolipoamide branched-chain transacylase gene (DBT) of the human branched-chain keto acid dehydrogenase complex to chromosome 1. Cytogenet Cell Genet56:33-5 1991
PubMed ID: 2004553
 
Perl A, Isaacs CM, Eddy RL, Byers MG, Sait SN, Shows TB, The human T-cell leukemia virus-related endogenous sequence (HRES1) is located on chromosome 1 at q42. Genomics11:1172-3 1991
PubMed ID: 1783388
 
Jenkins RN, Osborne-Lawrence SL, Sinclair AK, Eddy RL Jr, Byers MG, Shows TB, Duby AD, Structure and chromosomal location of the human gene encoding cartilage matrix protein. J Biol Chem265:19624-31 1990
PubMed ID: 2246248
 
Tenen DG, Satterthwaite AB, Borson R, Simmons D, Eddy RL, Shows TB, Chromosome 1 localization of the gene for CD34, a surface antigen of human stem cells. Cytogenet Cell Genet53:55-7 1990
PubMed ID: 1691071
 
Wade R, Eddy R, Shows TB, Kedes L, cDNA sequence, tissue-specific expression, and chromosomal mapping of the human slow-twitch skeletal muscle isoform of troponin I. Genomics7:346-57 1990
PubMed ID: 2365354
 
Tepler I, Morton CC, Shimizu A, Holcombe RF, Eddy R, Shows TB, Leder P, The gene for the human mast cell high-affinity IgE receptor alpha chain: chromosomal localization to Iq21-q23 and RFLP analysis. Am J Hum Genet45:761-5 1989
PubMed ID: 2573277

External Links

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dbSNP dbSNP ID: 12198
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$449.00USD
U.S. Academic/Non-profit/Government:
$263.00USD
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