Description:
CEPH/UTAH PEDIGREE 1331
SNP500 PANEL
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
CEPH
Repository Linkage Families
Pharmacogenetics |
| 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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Ethnicity
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UTAH/MORMON
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Family Member
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1
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Relation to Proband
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father
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Confirmation
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Clinical summary/Case history
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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 |
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| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR Analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227. |
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| Morton LM, Karyadi DM, Stewart C, Bogdanova TI, Dawson ET, Steinberg MK, Dai J, Hartley SW, Schonfeld SJ, Sampson JN, Maruvka YE, Kapoor V, Ramsden DA, Carvajal-Garcia J, Perou CM, Parker JS, Krznaric M, Yeager M, Boland JF, Hutchinson A, Hicks BD, Dagnall CL, Gastier-Foster JM, Bowen J, Lee O, Machiela MJ, Cahoon EK, Brenner AV, Mabuchi K, Drozdovitch V, Masiuk S, Chepurny M, Zurnadzhy LY, Hatch M, Berrington de Gonzalez A, Thomas GA, Tronko MD, Getz G, Chanock SJ, Radiation-related genomic profile of papillary thyroid carcinoma after the Chernobyl accident Science (New York, NY)372: 2020 |
| PubMed ID: 33888599 |
| |
| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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