Repository NIGMS Human Genetic Cell Repository
Subcollection CEPH
Repository Linkage Families
Pharmacogenetics
PIGI Consented Sample
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
Ethnicity UTAH/MORMON
Country of Origin USA
Family Member 2
Relation to Proband mother
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Mother
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 
GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME PCR analysis of DNA from this cell culture gave a negative result with a primer for Yq11, DYS227.
 
Remark Mother
Tartter MA, Ray LA, A prospective study of stress and alcohol craving in heavy drinkers Pharmacology, biochemistry, and behavior: 2012
PubMed ID: 22446386
 
Londin ER, Keller MA, Maista C, Smith G, Mamounas LA, Zhang R, Madore SJ, Gwinn K, Corriveau RA. , CoAIMs: A Cost-Effective Panel of Ancestry Informative Markers for Determining Continental Origins. Plos One5(10):e13443 2010
PubMed ID: 20976178
 
Kenny EM, Cormican P, Gilks WP, Gates AS, O'Dushlaine CT, Pinto C, Corvin AP, Gill M, Morris DW, Multiplex target enrichment using DNA indexing for ultra-high throughput SNP detection DNA research : an international journal for rapid publication of reports on genes and genomes18:31-8 2010
PubMed ID: 21163834
 
Tynan JA, Mahboubi P, Cagasan LL, van den Boom D, Ehrich M, Oeth P, Restriction enzyme-mediated enhanced detection of circulating cell-free fetal DNA in maternal plasma The Journal of molecular diagnostics : JMD13:382-9 2010
PubMed ID: 21704271
 
Treff NR, Su J, Tao X, Miller KA, Levy B, Scott RT, A novel single-cell DNA fingerprinting method successfully distinguishes sibling human embryos Fertility and sterility94:477-84 2009
PubMed ID: 19394599
 
Xue Y, Zhang X, Huang N, Daly A, Gillson CJ, Macarthur DG, Yngvadottir B, Nica AC, Woodwark C, Chen Y, Conrad DF, Ayub Q, Mehdi SQ, Li P, Tyler-Smith C, Population differentiation as an indicator of recent positive selection in humans: an empirical evaluation Genetics183:1065-77 2009
PubMed ID: 19737746
 
Riethman H, Human subtelomeric copy number variations Cytogenetic and genome research123:244-52 2008
PubMed ID: 19287161
 
Yellore VS, Papp JC, Sobel E, Khan MA, Rayner SA, Farber DB, Aldave AJ, Replication and refinement of linkage of posterior polymorphous corneal dystrophy to the posterior polymorphous corneal dystrophy 1 locus on chromosome 20 Genetics in medicine : official journal of the American College of Medical Genetics9:228-34 2007
PubMed ID: 17438387
 
Podder M, Ruan J, Tripp W, Chu E, Tebbutt J, Robust SNP genotyping by multiplex PCR and arrayed primer extension BMC medical genomics1:5 2007
PubMed ID: 18237385
 
Bergen AW, Baccarelli A, McDaniel TK, Kuhn K, Pfeiffer R, Kakol J, Bender P, Jacobs K, Packer B, Chanock SJ, Yeager M, Cis sequence effects on gene expression BMC genomics8:296 2007
PubMed ID: 17727713
 
Kadota M, Yang HH, Hu N, Wang C, Hu Y, Taylor PR, Buetow KH, Lee MP, Allele-specific chromatin immunoprecipitation studies show genetic influence on chromatin state in human genome PLoS genetics3:e81 2006
PubMed ID: 17511522
 
Pereira RW, Pena SD, Phylogeography of haplotypes of five microsatellites located in a low-recombination region of the X chromosome: studies worldwide and in Brazilian populations Genetica126:243-50 2006
PubMed ID: 16502100
 
de Bakker PI, McVean G, Sabeti PC, Miretti MM, Green T, Marchini J, Ke X, Monsuur AJ, Whittaker P, Delgado M, Morrison J, Richardson A, Walsh EC, Gao X, Galver L, Hart J, Hafler DA, Pericak-Vance M, Todd JA, Daly MJ, Trowsdale J, Wijmenga C, Vyse TJ, Beck S, Murray SS, Carrington M, Gregory S, Deloukas P, Rioux JD, A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC Nature Genetics38(10):1166-1172 2006
PubMed ID: 16998491
 
Tobler AR, Short S, Andersen MR, Paner TM, Briggs JC, Lambert SM, Wu PP, Wang Y, Spoonde AY, Koehler RT, Peyret N, Chen C, Broomer AJ, Ridzon DA, Zhou H, Hoo BS, Hayashibara KC, Leong LN, Ma CN, Rosenblum BB, Day JP, Ziegle JS, De La Vega FM, Rhodes MD, Hennessy KM, Wenz HM, The SNPlex genotyping system: a flexible and scalable platform for SNP genotyping Journal of biomolecular techniques : JBT16:398-406 2006
PubMed ID: 16522862
 
Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, Andrews TD, Fiegler H, Shapero MH, Carson AR, Chen W, Cho EK, Dallaire S, Freeman JL, González JR, Gratacòs M, Huang J, Kalaitzopoulos D, Komura D, MacDonald JR, Marshall CR, Mei R, Montgomery L, Nishimura K, Okamura K, Shen F, Somerville MJ, Tchinda J, Valsesia A, Woodwark C, Yang F, Zhang J, Zerjal T, Zhang J, Armengol L, Conrad DF, Estivill X, Tyler-Smith C, Carter NP, Aburatani H, Lee C, Jones KW, Scherer SW, Hurles ME, Global variation in copy number in the human genome Nature444:444-54 2006
PubMed ID: 17122850
 
Feuk L, Macdonald JR, Tang T, Carson AR, Li M, Rao G, Khaja R, Scherer SW, Discovery of human inversion polymorphisms by comparative analysis of human and chimpanzee DNA sequence assemblies. PLoS Genet1(4):e56 2005
PubMed ID: 16254605
 
Altshuler D, Brooks LD, Chakravarti A, Collins FS, Daly MJ, Donnelly P; International HapMap Consortium, A haplotype map of the human genome. Nature437(7063):1299-320 2005
PubMed ID: 16255080
 
Altshuler D, Brooks LD, Chakravarti A, Collins FS, Daly MJ, Donnelly P; International HapMap Consortium, A haplotype map of the human genome. Nature437(7063):1299-320 2005
PubMed ID: 16255080
 
De La Vega FM, Isaac H, Collins A, Scafe CR, Halldorsson BV, Su X, Lippert RA, Wang Y, Laig-Webster M, Koehler RT, Ziegle JS, Wogan LT, Stevens JF, Leinen KM, Olson SJ, Guegler KJ, You X, Xu LH, Hemken HG, Kalush F, Itakura M, Zheng Y, de The G, O'Brien SJ, Clark AG, Istrail S, Hunkapiller MW, Spier EG, Gilbert DA, The linkage disequilibrium maps of three human chromosomes across four populations reflect their demographic history and a common underlying recombination pattern. Genome Res15(4):454-62 2005
PubMed ID: 15781572
 
Ting C, Ye Y, Thomas H, Ruczinski I, Pevsner J, Analysis and visualization of chromosomal abnormalities in SNP data with SNPscan Genome Res7:25 2005
PubMed ID: 16420694
 
Miretti MM, Walsh EC, Ke X, Delgado M, Griffiths M, Hunt S, Morrison J, Whittaker P, Lander ES, Cardon LR, Bentley DR, Rioux JD, Beck S, Deloukas P, A high-resolution linkage-disequilibrium map of the human major histocompatibility complex and first generation of tag single-nucleotide polymorphisms. Am J Hum Genet76(4):634-46 2005
PubMed ID: 15747258
 
Bersaglieri T, Sabeti PC, Patterson N, Vanderploeg T, Schaffner SF, Drake JA, Rhodes M, Reich DE, Hirschhorn JN, Genetic signatures of strong recent positive selection at the lactase gene. Am J Hum Genet74(6):1111-20 2004
PubMed ID: 15114531
 
Matsuzaki H, Dong S, Loi H, Di X, Liu G, Hubbell E, Law J, Berntsen T, Chadha M, Hui H, Yang G, Kennedy GC, Webster TA, Cawley S, Walsh PS, Jones KW, Fodor SP, Mei R, Genotyping over 100,000 SNPs on a pair of oligonucleotide arrays. Nat Methods1(2):109-11 2004
PubMed ID: 15782172
 
Klomp LW, Vargas JC, van Mil SW, Pawlikowska L, Strautnieks SS, van Eijk MJ, Juijn JA, Pabón-Peña C, Smith LB, DeYoung JA, Byrne JA, Gombert J, van der Brugge G, Berger R, Jankowska I, Pawlowska J, Villa E, Knisely AS, Thompson RJ, Freimer NB, Houwen RH, Bull LN, Characterization of mutations in ATP8B1 associated with hereditary cholestasis Hepatology (Baltimore, Md)40:27-38 2004
PubMed ID: 15239083
 
Hu X, Schrodi SJ, Ross DA, Cargill M, Selecting tagging SNPs for association studies using power calculations from genotype data Human heredity57:156-70 2004
PubMed ID: 15297809
 
Baird PN, Craig JE, Richardson AJ, Ring MA, Sim P, Stanwix S, Foote SJ, Mackey DA, Analysis of 15 primary open-angle glaucoma families from Australia identifies a founder effect for the Q368STOP mutation of myocilin Human genetics112:110-6 2003
PubMed ID: 12522550
 
Fullerton J, Cubin M, Tiwari H, Wang C, Bomhra A, Davidson S, Miller S, Fairburn C, Goodwin G, Neale MC, Fiddy S, Mott R, Allison DB, Flint J, Linkage analysis of extremely discordant and concordant sibling pairs identifies quantitative-trait loci that influence variation in the human personality trait neuroticism American journal of human genetics72:879-90 2003
PubMed ID: 12612864
 
Rutter JL, Smith AM, Dávila MR, Sigurdson AJ, Giusti RM, Pineda MA, Doody MM, Tucker MA, Greene MH, Zhang J, Struewing JP, Mutational analysis of the BRCA1-interacting genes ZNF350/ZBRK1 and BRIP1/BACH1 among BRCA1 and BRCA2-negative probands from breast-ovarian cancer families and among early-onset breast cancer cases and reference individuals Human mutation22:121-8 2003
PubMed ID: 12872252
 
Haque KA, Pfeiffer RM, Beerman MB, Struewing JP, Chanock SJ, Bergen AW, Performance of high-throughput DNA quantification methods. BMC Biotechnol3(1):20 2003
PubMed ID: 14583097
 
Ewart-Toland A, Briassouli P, de Koning JP, Mao JH, Yuan J, Chan F, MacCarthy-Morrogh L, Ponder BA, Nagase H, Burn J, Ball S, Almeida M, Linardopoulos S, Balmain A, Identification of Stk6/STK15 as a candidate low-penetrance tumor-susceptibility gene in mouse and human. Nat Genet34(4):403-12 2003
PubMed ID: 12881723
 
Cheung VG, Conlin LK, Weber TM, Arcaro M, Jen KY, Morley M, Spielman RS, Natural variation in human gene expression assessed in lymphoblastoid cells. Nat Genet33(3):422-5 2003
PubMed ID: 12567189
 
Wiesner GL, Platzer P, Buxbaum S, Lewis S, MacMillen M, Olechnowicz J, Willis J, Chakravarti A, Elston RC, Markowitz SD, Testing for colon neoplasia susceptibility variants at the human COX2 locus. J Natl Cancer Inst93(8):635-9 2001
PubMed ID: 11309440
 
Medintz IL, Berti L, Emrich CA, Tom J, Scherer JR, Mathies RA, Genotyping energy-transfer-cassette-labeled short-tandem-repeat amplicons with capillary array electrophoresis microchannel plates. Clin Chem47(9):1614-21 2001
PubMed ID: 11514394
 
Wang WW, Spurdle AB, Kolachana P, Bove B, Modan B, Ebbers SM, Suthers G, Tucker MA, Kaufman DJ, Doody MM, Tarone RE, Daly M, Levavi H, Pierce H, Chetrit A, Yechezkel GH, Chenevix-Trench G, Offit K, Godwin AK, Struewing JP, A single nucleotide polymorphism in the 5' untranslated region of RAD51 and risk of cancer among BRCA1/2 mutation carriers. Cancer Epidemiol Biomarkers Prev10(9):955-60 2001
PubMed ID: 11535547
 
Mead S, Mahal SP, Beck J, Campbell T, Farrall M, Fisher E, Collinge J, Sporadic--but not variant--Creutzfeldt-Jakob disease is associated with polymorphisms upstream of PRNP exon 1. Am J Hum Genet69(6):1225-35 2001
PubMed ID: 11704923
 
Medintz I,Wong WW,Sensabaugh G,Mathies R, High speed single nucleotide polymorphism typing of a hereditary haemochromatosis mutation with capillary array electrophoresis microplates [In Process Citation] Electrophoresis21:2352-8 2000
PubMed ID: 10939445
 
Martin ER,Lai EH,Gilbert JR,Rogala AR,Afshari AJ,Riley J,Finch KL,Stevens JF,Livak KJ,Slotterbeck BD,Slifer SH,Warren LL,Conneally PM,Schmechel DE,Purvis I,Pericak-Vance MA,Roses AD,Vance J, SNPing away at complex diseases: analysis of single-nucleotide polymorphisms around APOE in alzheimer disease [In Process Citation] Am J Hum Genet67:383-94 2000
PubMed ID: 10869235
 
Doege KJ, Coulter SN, Meek LM, Maslen K, Wood JG, A human-specific polymorphism in the coding region of the aggrecan gene. Variable number of tandem repeats produce a range of core protein sizes in the general population. J Biol Chem272(21):13974-9 1997
PubMed ID: 9153261
 
Brzustowicz LM, Gardner JP, Hopp L, Jeanclos E, Ott J, Yang XY, Fekete Z,Aviv A, Linkage analysis using platelet-activating factor Ca2+ response in transformed lymphoblasts. Hypertension29(1 Pt 2):158-64 1997
PubMed ID: 9039096
 
Nussbaum RL, Orrison BM, Janne PA, Charnas L, Chinault AC, Physical mapping and genomic structure of the Lowe syndrome gene OCRL1. Hum Genet99(2):145-50 1997
PubMed ID: 9048911
No data is available
Split Ratio 1:4
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