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 |
GM17221 [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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ISCN
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46,XX,del(16)(pter>q11.2:)[3]/46,XX,del(16)(pter>q11.2:),del(16)(pter>q11.2:)[2]/46,XX,add(9)(qter>p21:?)[1]/46,XX[44]
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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 and by Chromosome Analysis |
| |
| Remarks |
46,XX/46,XX,add(9)(p); 96%/4% in lymphoblast culture; 46,XX in leukocytes |
| 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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| Innes CL, Heinloth AN, Flores KG, Sieber SO, Deming PB, Bushel PR, Kaufmann WK, Paules RS, ATM requirement in gene expression responses to ionizing radiation in human lymphoblasts and fibroblasts. Mol Cancer Res4(3):197-207 2006 |
| PubMed ID: 16547157 |
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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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| 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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| Ismail IH, Nyström S, Nygren J, Hammarsten O, Activation of ataxia telangiectasia mutated by DNA strand break-inducing agents correlates closely with the number of DNA double strand breaks The Journal of biological chemistry280:4649-55 2004 |
| PubMed ID: 15546858 |
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| Zhu Y, Alvarez C, Doll R, Kurata H, Schebye XM, Parry D, Lees E, Intra-S-phase checkpoint activation by direct CDK2 inhibition. Mol Cell Biol24(14):6268-77 2004 |
| PubMed ID: 15226429 |
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| Ismail IH, Mårtensson S, Moshinsky D, Rice A, Tang C, Howlett A, McMahon G, Hammarsten O, SU11752 inhibits the DNA-dependent protein kinase and DNA double-strand break repair resulting in ionizing radiation sensitization Oncogene23:873-82 2003 |
| PubMed ID: 14661061 |
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| Saito S, Goodarzi AA, Higashimoto Y, Noda Y, Lees-Miller SP, Appella E, Anderson CW, ATM mediates phosphorylation at multiple p53 sites, including Ser(46), in response to ionizing radiation. J Biol Chem277(15):12491-4 2002 |
| PubMed ID: 11875057 |
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| Deming PB, Cistulli CA, Zhao H, Graves PR, Piwnica-Worms H, Paules RS, Downes CS, Kaufmann WK, The human decatenation checkpoint. Proc Natl Acad Sci U S A98(21):12044-9 2001 |
| PubMed ID: 11593014 |
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