Repository NIGMS Human Genetic Cell Repository
Subcollection CEPH
Repository Linkage Families
Pharmacogenetics
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
Family Member 1
Relation to Proband father
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Father
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 positive result with a primer for Yq11, DYS227.
 
Remark Father
Fairbanks DJ, Fairbanks AD, Ogden TH, Parker GJ, Maughan PJ, NANOGP8: evolution of a human-specific retro-oncogene G3 (Bethesda, Md)2:1447-57 2012
PubMed ID: 23173096
 
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
 
Smith KM, Bauer L, Fischer M, Barkley R, Navia BA, Identification and characterization of human NR4A2 polymorphisms in attention deficit hyperactivity disorder American journal of medical genetics Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics133:57-63 2005
PubMed ID: 15635701
 
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
 
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
 
Karban AS, Okazaki T, Panhuysen CI, Gallegos T, Potter JJ, Bailey-Wilson JE, Silverberg MS, Duerr RH, Cho JH, Gregersen PK, Wu Y, Achkar JP, Dassopoulos T, Mezey E, Bayless TM, Nouvet FJ, Brant SR, Functional annotation of a novel NFKB1 promoter polymorphism that increases risk for ulcerative colitis. Hum Mol Genet13(1):35-45 2004
PubMed ID: 14613970
 
Birkisson IF, Halapi E, Bjornsdottir US, Shkolny DL, Adalsteinsdottir E, Arnason T, Gislason D, Gislason T, Gulcher J, Stefansson K, Hakonarson H, Genetic approaches to assessing evidence for a T helper type 1 cytokine defect in adult asthma. Am J Respir Crit Care Med169(9):1007-13 2004
PubMed ID: 14962816
 
Barker DL, Hansen MS, Faruqi AF, Giannola D, Irsula OR, Lasken RS, Latterich M, Makarov V, Oliphant A, Pinter JH, Shen R, Sleptsova I, Ziehler W, Lai E, Two methods of whole-genome amplification enable accurate genotyping across a 2320-SNP linkage panel. Genome Res14(5):901-7 2004
PubMed ID: 15123587
 
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
 
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
 
Shapero MH, Zhang J, Loraine A, Liu W, Di X, Liu G, Jones KW, MARA: a novel approach for highly multiplexed locus-specific SNP genotyping using high-density DNA oligonucleotide arrays Nucleic acids research32:e181 2004
PubMed ID: 15601992
 
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
 
Ben-Yosef T, Ness SL, Madeo AC, Bar-Lev A, Wolfman JH, Ahmed ZM, Desnick RJ, Willner JP, Avraham KB, Ostrer H, Oddoux C, Griffith AJ, Friedman TB, A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome. N Engl J Med348(17):1664-70 2003
PubMed ID: 12711741
 
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
 
Jordan B, Charest A, Dowd JF, Blumenstiel JP, Yeh Rf RF, Osman A, Housman DE, Landers JE, Genome complexity reduction for SNP genotyping analysis. Proc Natl Acad Sci U S A99(5):2942-7 2002
PubMed ID: 11880640
 
Kaplan DE, Gayán J, Ahn J, Won TW, Pauls D, Olson RK, DeFries JC, Wood F, Pennington BF, Page GP, Smith SD, Gruen JR, Evidence for linkage and association with reading disability on 6p213-22 American journal of human genetics70:1287-98 2002
PubMed ID: 11951179
 
Ahn J, Won TW, Kaplan DE, Londin ER, Kuzmic P, Gelernter J, Gruen JR, A detailed physical map of the 6p reading disability locus, including new markers and confirmation of recombination suppression Human genetics111:339-49 2002
PubMed ID: 12384775
 
Watts JA, Morley M, Burdick JT, Fiori JL, Ewens WJ, Spielman RS, Cheung VG, Gene expression phenotype in heterozygous carriers of ataxia telangiectasia. Am J Hum Genet71(4):791-800 2002
PubMed ID: 12226795
 
Chagnon P, Michaud J, Mitchell G, Mercier J, Marion JF, Drouin E, Rasquin-Weber A, Hudson TJ, Richter A, A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis. Am J Hum Genet71(6):1443-9 2002
PubMed ID: 12417987
 
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
 
Wakeley J, Nielsen R, Liu-Cordero SN, Ardlie K, The discovery of single-nucleotide polymorphisms--and inferences about human demographic history. Am J Hum Genet69(6):1332-47 2001
PubMed ID: 11704929
 
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
 
Hakonarson H, Bjornsdottir US, Ostermann E, Arnason T, Adalsteinsdottir AE, Halapi E, Shkolny D, Kristjansson K, Gudnadottir SA, Frigge ML, Gislason D, Gislason T, Kong A, Gulcher J, Stefansson K, Allelic frequencies and patterns of single-nucleotide polymorphisms in candidate genes for asthma and atopy in Iceland. Am J Respir Crit Care Med164(11):2036-44 2001
PubMed ID: 11739132
 
Thompson PM, Maris JM, Hogarty MD, Seeger RC, Reynolds CP, Brodeur GM, White PS, Homozygous deletion of CDKN2A (p16INK4a/p14ARF) but not within 1p36 or at other tumor suppressor loci in neuroblastoma. Cancer Res61(2):679-86 2001
PubMed ID: 11212268
 
Meldrum DR, Evensen HT, Pence WH, Moody SE, Cunningham DL, Wiktor PJ, ACAPELLA-1K, a capillary-based submicroliter automated fluid handling system for genome analysis. Genome Res10:95-104 2000
PubMed ID: 10645954
 
Campbell CE, Casey G, Goodrich K, Genomic structure of TBX2 indicates conservation with distantly related T-box genes. Mamm Genome9(1):70-3 1998
PubMed ID: 9434949
 
Zubenko GS, Hughes HB, Stiffler JS, Hurtt MR, Kaplan BB, A genome survey for novel Alzheimer disease risk loci: results at 10-cM resolution. Genomics50(2):121-8 1998
PubMed ID: 9653640
 
Bowman ED, Bromeke B, Lensing W, Shields PG, Apolipoprotein E allelic frequency in elderly smokers. Am J Med Genet76(1):32-6 1998
PubMed ID: 9508061
 
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
 
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
 
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
 
Attwood J, Chiano M, Collins A, Donis-Keller H, Dracopoli N, Fountain J, Falk C, Goudie D, Gusella J, Haines J, et al, CEPH consortium Map of chromosome 9. Genomics19:203-14 1994
PubMed ID: 8188250
 
Goldman D, O'Brien SJ, Lucas-Derse S, Dean M, Linkage mapping of human polymorphic proteins identified by two-dimensional electrophoresis. Genomics11:875-84 1991
PubMed ID: 1686020
 
Greig GM, Parikh S, George J, Powers VE, Willard HF, Molecular cytogenetics of alpha satellite DNA from chromosome 12: fluorescence in situ hybridization and description of DNA and array length polymorphisms. Cytogenet Cell Genet56:144-8 1991
PubMed ID: 1675980
 
Nicholls RD, Knoll JH, Glatt K, Hersh JH, Brewster TD, Graham JM Jr, Wurster-Hill D, Wharton R, Latt SA, Restriction fragment length polymorphisms within proximal 15q and their use in molecular cytogenetics and the Prader-Willi syndrome. Am J Med Genet33:66-77 1989
PubMed ID: 2568752
 
Starr T, Wood S, A restriction-fragment-length difference detected by the anonymous probe DXS199 exhibits non-Mendelian inheritance. Am J Hum Genet42:267-70 1988
PubMed ID: 2893545
No data is available
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