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NA10063 DNA from Somatic cell hybrid

Description:

CHROMOSOME X REGIONAL MAPPING PANEL SOMATIC CELL HYBRIDS
CHROMOSOME 21 REGIONAL MAPPING PANEL 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 Karyotypic analysis and Southern blot hybridization
ISCN Mouse/human hybrid retaining a human der(X)t(X;21)(p21;p12)
Remarks Line A2-4; HPRT-deficient mouse A9 cells fused with fibroblasts from a patient, GM10062, t(X;21)(p21;p12), with muscular dystrophy; grown in HAT medium; 98% of cells retain the human der(X) chromosome

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 DNA from this somatic cell hybrid gave negative results in Southern blot hybridization analyses with probes for Xp22.2, DXS16, and Xp22.32 (also Yp11.3), MIC2, and a positive result with a probe for Xq28, DXS15. PCR analysis of DNA from this somatic cell hybrid gave a negative result with a primer for Xp22.32, STS, and gave positive results with primers for Xp11.21, ALAS2, Xp11.3, DXS1003, Xq12, DXS453, Xq13.3, PGK1, Xq21.3, DXS3, Xq26, HPRT, and Xq28, G6PD.
 
GENE MAPPING & DOSAGE STUDIES - CHROMOSOME 14 DNA from this somatic cell hybrid gave a negative result in Southern blot hybridization analysis with a probe for 14q32.33, IGHG4.
 
GENE MAPPING & DOSAGE STUDIES - CHROMOSOME 16 DNA from this somatic cell hybrid gave negative results in Southern blot hybridization analyses with probes for 16pterp13, D16S36, and 16q13q22.1, MT2.
 
GENE MAPPING & DOSAGE STUDIES - CHROMOSOME 17 DNA from this somatic cell hybrid gave a negative result in Southern blot hybridization analysis with a probe for 17q21.3q23, MPO.
 
GENE MAPPING & DOSAGE STUDIES - CHROMOSOME 21 DNA from this somatic cell hybrid gave negative results in Southern blot hybridization analyses with probes for 21q11, D21S26, and 21q22.1q22.2, D21S17. PCR analysis of DNA from this somatic cell hybrid gave negative results with primers for 21p11.2, D21S1278, 21q11, D21S120, 21q11.1, D21S236, 21q21.2, APP, 21q21.2, AMYLOID, and 21q22.3, ITGB2.
 
GENE MAPPING & DOSAGE STUDIES - CHROMOSOME 22 DNA from this somatic cell hybrid gave a negative result in Southern blot hybridization analysis with a probe for 22q12.3q13.1, PDGFB.
 

Phenotypic Data

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Remarks Line A2-4; HPRT-deficient mouse A9 cells fused with fibroblasts from a patient, GM10062, t(X;21)(p21;p12), with muscular dystrophy; grown in HAT medium; 98% of cells retain the human der(X) chromosome

Publications

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van Sluis M, van Vuuren C, Mangan H, McStay B, NORs on human acrocentric chromosome p-arms are active by default and can associate with nucleoli independently of rDNA Proceedings of the National Academy of Sciences of the United States of America: 2020
PubMed ID: 32332163
 
van Sluis M, Gailín MÓ, McCarter JGW, Mangan H, Grob A, McStay B, Human NORs, comprising rDNA arrays and functionally conserved distal elements, are located within dynamic chromosomal regions Genes & development: 2019
PubMed ID: 31727772
 
Floutsakou I, Agrawal S, Nguyen TT, Seoighe C, Ganley AR, McStay B, The shared genomic architecture of human nucleolar organizer regions Genome research23:2003-12 2013
PubMed ID: 23990606
 
Marshall LJ, Moore AC, Ohki M, Kitabayashi I, Patterson D, Ornelles DA, RUNX1 permits E4orf6-directed nuclear localization of the adenovirus E1B-55K protein and associates with centers of viral DNA and RNA synthesis Journal of virology82:6395-408 2008
PubMed ID: 18417565
 
Chastain-Moore AM, Roberts T, Trott DA, Newbold RF, Ornelles DA, An activity associated with human chromosome 21 permits nuclear colocalization of the adenovirus E1B-55K and E4orf6 proteins and promotes viral late gene expression. J Virol77(14):8087-98 2003
PubMed ID: 12829847
 
Boycott KM, Halley GR, Schlessinger D, Bech-Hansen NT, A 2-megabase physical contig incorporating 43 DNA markers on the human X chromosome at p11.23-p11.22 from ZNF21 to DXS255. Genomics33:488-97 1996
PubMed ID: 8661008
 
Oaks MK, Hanson JP Jr, O'Malley DP, Molecular cytogenetic mapping of the human melanoma antigen (MAGE) gene family to chromosome region Xq27-qter: implications for MAGE immunotherapy. Cancer Res54:1627-9 1994
PubMed ID: 8137270
 
Corcos IA, Lafreniere RG, Begy CR, Loch-Caruso R, Willard HF, Glover TW, Refined localization of human connexin32 gene locus, GJB1, to Xq13.1. Genomics13:479-80 1992
PubMed ID: 1319395
 
Bodrug SE, Ray PN, Gonzalez IL, Schmickel RD, Sylvester JE, Worton RG, Molecular analysis of a constitutional X-autosome translocation in a female with muscular dystrophy. Science237:1620-4 1987
PubMed ID: 3629260
 
Ray PN, Belfall B, Duff C, Logan C, Kean V, Thompson MW, Sylvester JE, Gorski JL, Schmickel RD, Worton RG, Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystrophy. Nature318:672-5 1985
PubMed ID: 3001530
 
Worton RG, Duff C, Sylvester JE, Schmickel RD, Willard HF, Duchenne muscular dystrophy involving translocation of the dmd gene next to ribosomal RNA genes. Science224:1447-9 1984
PubMed ID: 6729462

External Links

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dbSNP dbSNP ID: 11327
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