Repository NIGMS Human Genetic Cell Repository
Subcollection Chromosome Abnormalities
Quantity 50 µg
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 3
Relation to Proband father
Confirmation Karyotypic analysis and Case history
ISCN 46,XY,del(8)(p23)[1]/46,XY[21].arr[hg19]8p23.1(7,392,246-7,787,950)x1
Species Homo sapiens
Common Name Human
Remarks Father of a boy with del(8); spouse of GM09947A; 46,XY; 4% of cells show random chromosome loss/gain
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 Father of a boy with del(8); spouse of GM09947A; 46,XY; 4% of cells show random chromosome loss/gain
Mulero JJ, Chang CW, Lagacé RE, Wang DY, Bas JL, McMahon TP, Hennessy LK, Development and validation of the AmpFlSTR MiniFiler PCR Amplification Kit: a MiniSTR multiplex for the analysis of degraded and/or PCR inhibited DNA Journal of forensic sciences53:838-52 2008
PubMed ID: 18540972
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
Mulero JJ, Chang CW, Calandro LM, Green RL, Li Y, Johnson CL, Hennessy LK, Development and validation of the AmpFlSTR Yfiler PCR amplification kit: a male specific, single amplification 17 Y-STR multiplex system Journal of forensic sciences51:64-75 2006
PubMed ID: 16423225
Rodig H, Roewer L, Gross A, Richter T, de Knijff P, Kayser M, Brabetz W, Evaluation of haplotype discrimination capacity of 35 Y-chromosomal short tandem repeat loci Forensic science international174:182-8 2006
PubMed ID: 17543484
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
Pastinen T, Sladek R, Gurd S, Sammak A, Ge B, Lepage P, Lavergne K, Villeneuve A, Gaudin T, Brandstrom H, Beck A, Verner A, Kingsley J, Harmsen E, Labuda D, Morgan K, Vohl MC, Naumova AK, Sinnett D, Hudson TJ, A survey of genetic and epigenetic variation affecting human gene expression. Physiol Genomics16(2):184-93 2004
PubMed ID: 14583597
Hering S, Brundirs N, Kuhlisch E, Edelmann J, Plate I, Benecke M, Van PH, Michael M, Szibor R, DXS10011: studies on structure, allele distribution in three populations and genetic linkage to further q-telomeric chromosome X markers International journal of legal medicine118:313-9 2004
PubMed ID: 15248074
Fregeau CJ, Aubin RA, Elliott JC, Gill SS, Fourney RM, Characterization of human lymphoid cell lines GM9947 and GM9948 as intra- and interlaboratory reference standards for DNA typing. Genomics28:184-97 1995
PubMed ID: 8530025
Fregeau CJ, Fourney RM, DNA typing with fluorescently tagged short tandem repeats: a sensitive and accurate approach to human identification. Biotechniques15:100-19 1993
PubMed ID: 8103347
No data is available
Split Ratio 1:3
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
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