Description:
DERIVATIVE CHROMOSOME
TRANSLOCATED CHROMOSOME
ANEUPLOID CHROMOSOME NUMBER - NON-TRISOMIC
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Chromosome Abnormalities
Chromosome Abnormalities |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
DNA from LCL
|
|
Race
|
White
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Karyotypic analysis and Case history
|
|
ISCN
|
47,XX,+12[37]/46,XX,der(12)t(12;18)(p11q11),-18[13]
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| 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 |
| |
| MEX PHENOTYPES |
Sklar and Strauss (NATURE 289:417-420,1981) assigned this culture a mex- phenotype based upon its ability to remove O6-MeG from alkylated DNA. |
| |
| Cytogenetics |
Chromosome 12: ANEUPLOID Aneuploid Segment (+)12pter>12qter |
|
Chromosome 12: ANEUPLOID Aneuploid Segment (-)12pter>12p11 |
|
Chromosome 12: ANEUPLOID Trisomic Segment 12pter>12qter) |
|
Chromosome 12: DERIVATIVE CHROMOSOME Aneuploid Segment (-)12pter>12p11 |
|
Chromosome 12: DERIVATIVE CHROMOSOME Trisomic Segment 12pter>12qter) |
|
Chromosome 18: DERIVATIVE CHROMOSOME Aneuploid Segment (-)18pter>18q11 |
| Remarks |
HLA type A2(A9),B12,B18; 45,XX,-12,-18, +der(12),t(12;18)(12qter>12p11::18q11> 18qter)/47,XX,+12; 78%/22% |
| Hu JJ, Hall MC, Grossman L, Hedayati M, McCullough DL, Lohman K, Case LD, Deficient nucleotide excision repair capacity enhances human prostate cancer risk. Cancer Res64(3):1197-201 2004 |
| PubMed ID: 14871857 |
| |
| Cheng L, Bucana CD, Wei Q, Fluorescence in situ hybridization method for measuring transfection efficiency. Biotechniques21(3):486-91 1996 |
| PubMed ID: 8879589 |
| |
| Zhukovskaya N, Rydberg B, Karran P, Inactive O6-methylguanine-DNA methyltransferase in human cells. Nucleic Acids Res20:6081-90 1992 |
| PubMed ID: 1461738 |
| |
| Hansson J, Keyse SM, Lindahl T, Wood RD, DNA excision repair in cell extracts from human cell lines exhibiting hypersensitivity to DNA-damaging agents. Cancer Res51:3384-90 1991 |
| PubMed ID: 2054778 |
| |
| Willis AE, Spurr NK, Lindahl T, Concomitant reversion of the characteristic phenotypic properties of a cell line of Bloom's syndrome origin. Carcinogenesis10:217-9 1989 |
| PubMed ID: 2910526 |
| |
| Cohen MM, Simpson SJ, Increased clastogenicity and decreased inhibition of DNA synthesis by neocarzinostatin and tallysomycin in ataxia telangiectasia lymphoid cells. Mutat Res112:119-28 1983 |
| PubMed ID: 6188042 |
| |
| Harris AL, Karran P, Lindahl T, O6-Methylguanine-DNA methyltransferase of human lymphoid cells: structural and kinetic properties and absence in repair-deficient cells. Cancer Res43:3247-52 1983 |
| PubMed ID: 6342762 |
| |
| Cohen MM, Fruchtman CE, Simpson SJ, Martin AO, The cytogenetic response of Fanconi's anemia lymphoblastoid cell lines to various clastogens. Cytogenet Cell Genet34:230-40 1982 |
| PubMed ID: 6183057 |
| |
| Cohen MM, Simpson SJ, Pazos L, Specificity of bleomycin-induced cytotoxic effects on ataxia telangiectasia lymphoid cell lines. Cancer Res41:1817-23 1981 |
| PubMed ID: 6163529 |
| |
| Littlefield LG, Colyer SP, Joiner EE, DuFrain RJ, Frome E, Cohen MM, Chromosomal radiation sensitivity in ataxia telangiectasia long-term lymphoblastoid cell lines. Cytogenet Cell Genet31:203-13 1981 |
| PubMed ID: 6978798 |
| |
| Moshell AN, Tarone RE, Newfield SA, Andrews AD, Robbins JH, A simple and rapid method for evaluating the survival of xeroderma pigmentosum lymphoid lines after irradiation with ultraviolet light. In Vitro17:299-307 1981 |
| PubMed ID: 6263790 |
| |
| Sklar R, Strauss B, Removal of O6-methylguanine from DNA of normal and xeroderma pigmentosum-derived lymphoblastoid lines. Nature289:417-20 1981 |
| PubMed ID: 7464910 |
| |
| Berger NA, Sikorski GW, Petzold SJ, Kurohara KK, Defective poly(adenosine diphosphoribose) synthesis in xeroderma pigmentosum. Biochemistry19:289-93 1980 |
| PubMed ID: 7352988 |
| |
| Cohen, Absence of a clastogenic factor in ataxia telangiectasia lymphoblastoid cells. Cancer Genet Cytogenet2:327-334 1980 |
| PubMed ID: 7352988 |
| |
| Moses RE, Beaudet AL, Apurinic DNA endonuclease activities in repair-deficient human cell lines. Nucleic Acids Res5:463-73 1978 |
| PubMed ID: 634794 |
|