Description:
APPARENTLY HEALTHY INDIVIDUAL
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Apparently Healthy Collection |
| Alternate IDs |
GM17212 [APPARENTLY HEALTHY INDIVIDUAL] |
| 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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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Karyotypic analysis and Case history
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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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Remarks
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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 |
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| Remarks |
See GM00967D Fibroblast; 6% of cells show random chromosome loss; same as GM13336 only 6 years younger |
| Abbasi R, Efferth T, Kuhmann C, Opatz T, Hao X, Popanda O, Schmezer P, The endoperoxide ascaridol shows strong differential cytotoxicity in nucleotide excision repair-deficient cells Toxicology and applied pharmacology259:302-10 2011 |
| PubMed ID: 22280988 |
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| Liu P, Qian L, Sung JS, de Souza-Pinto NC, Zheng L, Bogenhagen DF, Bohr VA, Wilson DM, Shen B, Demple B, Removal of Oxidative DNA Damage via FEN1-Dependent Long-Patch Base Excision Repair in Human Cell Mitochondria Molecular and cellular biology259:302-10 2008 |
| PubMed ID: 18541666 |
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| Atwal GS, Bond GL, Metsuyanim S, Papa M, Friedman E, Distelman-Menachem T, Ben Asher E, Lancet D, Ross DA, Sninsky J, White TJ, Levine AJ, Yarden R, Haplotype structure and selection of the MDM2 oncogene in humans Proceedings of the National Academy of Sciences of the United States of America104:4524-9 2007 |
| PubMed ID: 17360557 |
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| Gong Y, Beitelshees AL, Wessel J, Langaee TY, Schork NJ, Johnson JA, Single nucleotide polymorphism discovery and haplotype analysis of Ca2+-dependent K+ channel beta-1 subunit Pharmacogenetics and genomics17:267-75 2007 |
| PubMed ID: 17496725 |
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| Harris SL, Gil G, Robins H, Hu W, Hirshfield K, Bond E, Bond G, Levine AJ, Detection of functional single-nucleotide polymorphisms that affect apoptosis Proceedings of the National Academy of Sciences of the United States of America102:16297-302 2005 |
| PubMed ID: 16260726 |
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| Kumaravel TS, Bristow RG, Detection of genetic instability at HER-2/neu and p53 loci in breast cancer cells sing Comet-FISH Breast cancer research and treatment91:89-93 2005 |
| PubMed ID: 15868435 |
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| Sotamaa K, Liyanarachchi S, Mecklin JP, Järvinen H, Aaltonen LA, Peltomäki P, de la Chapelle A, p53 codon 72 and MDM2 SNP309 polymorphisms and age of colorectal cancer onset in Lynch syndrome Clinical cancer research : an official journal of the American Association for Cancer Research11:6840-4 2005 |
| PubMed ID: 16203772 |
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| Stuart JA, Mayard S, Hashiguchi K, Souza-Pinto NC, Bohr VA, Localization of mitochondrial DNA base excision repair to an inner membrane-associated particulate fraction. Nucleic Acids Res33(12):3722-32 2005 |
| PubMed ID: 16006620 |
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| Balajee AS, Machwe A, May A, Gray MD, Oshima J, Martin GM, Nehlin JO, Brosh R, Orren DK, Bohr VA, The Werner syndrome protein is involved in RNA polymerase II transcription. Mol Biol Cell10:2655-68 1999 |
| PubMed ID: 10436020 |
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| Cooper MP, Balajee AS, Bohr VA, The C-terminal domain of p21 inhibits nucleotide excision repair In vitro and In vivo. Mol Biol Cell10:2119-29 1999 |
| PubMed ID: 10397753 |
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| Balajee AS, May A, Dianov GL, Friedberg EC, Bohr VA, Reduced RNA polymerase II transcription in intact and permeabilized Cockayne syndrome group B cells. Proc Natl Acad Sci U S A94(9):4306-11 1997 |
| PubMed ID: 9113985 |
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| Takai S, Price FM, Sanford KK, Tarone RE, Parshad R, Persistence of chromatid damage after G2 phase X-irradiation in lymphoblastoid cells from Gardner's syndrome. Carcinogenesis11:1425-8 1990 |
| PubMed ID: 2387030 |
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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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