Repository NIGMS Human Genetic Cell Repository
Subcollection Apparently Healthy Collection
Quantity 0.050mg
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Race Caucasian
Family Member 1
Relation to Proband proband
Confirmation Karyotypic analysis and Case history
ISCN 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]
Species Homo sapiens
Common Name Human
Remarks 46,XX/46,XX,add(9)(p); 96%/4% in lymphoblast culture; 46,XX in leukocytes
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
Remark 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
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
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
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
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
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
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
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
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
View karyotype 
Split Ratio 1:3
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