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GM01202 LCL from B-Lymphocyte

Description:

ANEUPLOID CHROMOSOME NUMBER - NON-TRISOMIC

Affected:

No Data

Sex:

Male

Age:

7 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
dbGaP
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Race White
Relation to Proband proband
Confirmation Karyotypic analysis after cell line submission to CCR
ISCN 49,XXXXY
Species Homo sapiens
Common Name Human

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
 
Cytogenetics Chromosome X: ANEUPLOID Aneuploid Segment (+)Xpter>Xqter

Phenotypic Data

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No data is available

Publications

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Caballero M, Ge T, Rebelo AR, Seo S, Kim S, Brooks K, Zuccaro M, Kanagaraj R, Vershkov D, Kim D, Smogorzewska A, Smolka M, Benvenisty N, West SC, Egli D, Mace EM, Koren A, Comprehensive analysis of DNA replication timing across 184 cell lines suggests a role for MCM10 in replication timing regulation Human molecular genetics: 2021
PubMed ID: 35394024
 
Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013
PubMed ID: 23665875
 
Yokoi H, Hadano S, Kogi M, Kang X, Wakasa K, Ikeda JE, Isolation of expressed sequences encoded by the human Xq terminal portion using microclone probes generated by laser microdissection. Genomics20:404-11 1994
PubMed ID: 8034313
 
Hendrickx J, Coucke P, Bossuyt P, Wauters J, Raeymaekers P, Marchau F, Smit GP, Stolte I, Sardharwalla IB, Berthelot J, et al, X-linked liver glycogenosis: localization and isolation of a candidate gene. Hum Mol Genet2:583-9 1993
PubMed ID: 8518797
 
Wang Q, Ishikawa-Brush Y, Monaco AP, Nelson DL, Caskey CT, Pauly SP, Lenoir GM, Sylla BS, Physical mapping of Xq24-25 around loci closely linked to the X-linked lymphoproliferative syndrome locus: an overlapping YAC map and linkage between DXS12, DXS42, and DXS37. Eur J Hum Genet1:64-71 1993
PubMed ID: 8069652
 
Levinson B, Kenwrick S, Gamel P, Fisher K, Gitschier J, Evidence for a third transcript from the human factor VIII gene. Genomics14:585-9 1992
PubMed ID: 1427887
 
Feil R, Aubourg P, Mosser J, Douar AM, Le Paslier D, Philippe C, Mandel JL, Adrenoleukodystrophy: a complex chromosomal rearrangement in the Xq28 red/green-color-pigment gene region indicates two possible gene localizations. Am J Hum Genet49:1361-71 1991
PubMed ID: 1746561
 
Musarella MA, Anson-Cartwright CL, McDowell C, Burghes AH, Coulson SE, Worton RG, Rommens JM, Physical mapping at a potential X-linked retinitis pigmentosa locus (RP3) by pulsed-field gel electrophoresis. Genomics11:263-72 1991
PubMed ID: 1769646
 
Mutter GL, Pomponio RJ, Molecular diagnosis of sex chromosome aneuploidy using quantitative PCR. Nucleic Acids Res19:4203-7 1991
PubMed ID: 1678507
 
Vincent A, Heitz D, Petit C, Kretz C, Oberle I, Mandel JL, Abnormal pattern detected in fragile-X patients by pulsed-field gel electrophoresis. Nature349:624-6 1991
PubMed ID: 1672039
 
Kenwrick S, Gitschier J, A contiguous, 3-Mb physical map of Xq28 extending from the colorblindness locus to DXS15. Am J Hum Genet45:873-82 1989
PubMed ID: 2589319
 
Muller U, Lalande M, Donlon TA, Heartlein MW, Breakage of the human Y-chromosome short arm between two blocks of tandemly repeated DNA sequences. Genomics5:153-6 1989
PubMed ID: 2548948
 
Tilley WD, Marcelli M, Wilson JD, McPhaul MJ, Characterization and expression of a cDNA encoding the human androgen receptor. Proc Natl Acad Sci U S A86:327-31 1989
PubMed ID: 2911578
 
Hoffman EP, Monaco AP, Feener CC, Kunkel LM, Conservation of the Duchenne muscular dystrophy gene in mice and humans. Science238:347-50 1987
PubMed ID: 3659917
 
Hofker MH, Bergen AA, Skraastad MI, Carpenter NJ, Veenema H, Connor JM, Bakker E, van Ommen GJ, Pearson PL, Efficient isolation of X chromosome-specific single-copy probes from a cosmid library of a human X/hamster hybrid-cell line: mapping of new probes close to the locus for X-linked mental retardation. Am J Hum Genet40:312-28 1987
PubMed ID: 2883888
 
Koenig M, Hoffman EP, Bertelson CJ, Monaco AP, Feener C, Kunkel LM, Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell50:509-17 1987
PubMed ID: 3607877
 
Muller U, Latt SA, Donlon T, Y-specific DNA sequences in male patients with 46,XX and 47,XXX karyotypes. Am J Med Genet28:393-401 1987
PubMed ID: 2827475
 
Muller U, Donlon T, Schmid M, Fitch N, Richer CL, Lalande M, Latt SA, Deletion mapping of the testis determining locus with DNA probes in 46,XX males and in 46,XY and 46,X,dic(Y) females. Nucleic Acids Res14:6489-505 1986
PubMed ID: 3748818
 
Muller U, Lalande M, Donlon T, Latt SA, Moderately repeated DNA sequences specific for the short arm of the human Y chromosome are present in XX males and reduced in copy number in an XY female [published erratum appears in Nucleic Acids Res 1986 Aug 26;14(16):6784] Nucleic Acids Res14:1325-40 1986
PubMed ID: 3951989
 
Nadon N, Sekhon G, Brown LJ, Korn N, Petersen JW, Strandtmann J, Chang C, DeMars R, Derepression of HPRT locus on inactive X chromosome of human lymphoblastoid cell line. Somat Cell Mol Genet12:541-54 1986
PubMed ID: 3466359
 
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
 
Koenig M, Moisan JP, Heilig R, Mandel JL, Homologies between X and Y chromosomes detected by DNA probes: localisation and evolution. Nucleic Acids Res13:5485-501 1985
PubMed ID: 2994000
 
Kunkel LM, Monaco AP, Middlesworth W, Ochs HD, Latt SA, Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion. Proc Natl Acad Sci U S A82:4778-82 1985
PubMed ID: 2991893
 
Wood WI, Capon DJ, Simonsen CC, Eaton DL, Gitschier J, Keyt B, Seeburg PH, Smith DH, Hollingshead P, Wion KL, et al, Expression of active human factor VIII from recombinant DNA clones. Nature312:330-7 1984
PubMed ID: 6438526
 
Yount WJ, Utsinger PD, Hutt LM, Buchanan PD, Korn JH, Fuller CR, Logue M, Pagano JS, Subpopulations of human lymphoblastoid cell lines. Correlation with the expression of surface receptors and content of Epstein-Barr virus genome. Scand J Immunol5:795-810 1976
PubMed ID: 62390

External Links

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dbSNP dbSNP ID: 17955

Culture Protocols

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Split Ratio 1:4
Temperature 37 C
Percent CO2 5%
Medium Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not Inactivated
Substrate None specified
Subcultivation Method dilution - add fresh medium
Supplement -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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