Description:
ANEUPLOID CHROMOSOME NUMBER - NON-TRISOMIC
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities
dbGaP |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Relation to Proband
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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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49,XXXXY
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Species
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Homo sapiens
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Common Name
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Human
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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 |
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| Cytogenetics |
Chromosome X: ANEUPLOID Aneuploid Segment (+)Xpter>Xqter |
| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| Mutter GL, Pomponio RJ, Molecular diagnosis of sex chromosome aneuploidy using quantitative PCR. Nucleic Acids Res19:4203-7 1991 |
| PubMed ID: 1678507 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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