Description:
CEPH/UTAH PEDIGREE 1347
CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9
HUMAN VARIATION PANEL - EUROPEAN WHITE PANEL OF 24
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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| Remarks |
Father; donor subject is heterozygous for a C>T change at nucleotide 416 (416C>T) in exon 3 of the CYP2C9 gene (CYP2C9*2) which results in a substitution of cysteine for arginine at codon 144 [Arg144Cys (R144C)] |
| Quiñones-Lombraña A1, Li N2, Del Solar V2, Atilla-Gokcumen GE2, Blanco JG, CBR1 rs9024 genotype status impacts the bioactivation of loxoprofen in human liver Biopharm Drug Dispos39:315-318 2018 |
| PubMed ID: 29851133 |
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| 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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| Lambert CA, Connelly CF, Madeoy J, Qiu R, Olson MV, Akey JM, Highly punctuated patterns of population structure on the X chromosome and implications for African evolutionary history American journal of human genetics86:34-44 2009 |
| PubMed ID: 20085712 |
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| 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 |
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| Li L, Fridley B, Kalari K, Jenkins G, Batzler A, Safgren S, Hildebrandt M, Ames M, Schaid D, Wang L, Gemcitabine and Cytosine Arabinoside Cytotoxicity: Association with Lymphoblastoid Cell Expression Cancer research68:7050-7058 2008 |
| PubMed ID: 18757419 |
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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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| Boyko AR, Williamson SH, Indap AR, Degenhardt JD, Hernandez RD, Lohmueller KE, Adams MD, Schmidt S, Sninsky JJ, Sunyaev SR, White TJ, Nielsen R, Clark AG, Bustamante CD, Assessing the evolutionary impact of amino acid mutations in the human genome PLoS genetics4:e1000083 2007 |
| PubMed ID: 18516229 |
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| Crawford DC, Ritchie MD, Rieder MJ, Identifying the genotype behind the phenotype: a role model found in VKORC1 and its association with warfarin dosing Pharmacogenomics8:487-96 2007 |
| PubMed ID: 17465713 |
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| rieder, M.J., Reiner, A.P. and Rettie, A.E., Gamma-glutamyl carboxylase (GGCX) tagSNPs have limited utility for predicting warfarin maintenance dose.
J Thrombosis and Haemostasis5(11):2227-2234 2007 |
| PubMed ID: 17764537 |
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| 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 |
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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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| 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 |
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| Bhangale TR, Rieder MJ, Livingston RJ, Nickerson DA, Comprehensive identification and characterization of diallelic insertion-deletion polymorphisms in 330 human candidate genes. Hum Mol Genet14(1):59-69 2005 |
| PubMed ID: 15525656 |
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| Bustamante CD, Fledel-Alon A, Williamson S, Nielsen R, Hubisz MT, Glanowski S, Tanenbaum DM, White TJ, Sninsky JJ, Hernandez RD, Civello D, Adams MD, Cargill M, Clark AG, Natural selection on protein-coding genes in the human genome Nature437:1153-7 2005 |
| PubMed ID: 16237444 |
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| Carlson CS, Aldred SF, Lee PK, Tracy RP, Schwartz SM, Rieder M, Liu K, Williams OD, Iribarren C, Lewis EC, Fornage M, Boerwinkle E, Gross M, Jaquish C, Nickerson DA, Myers RM, Siscovick DS, Reiner AP, Polymorphisms within the C-Reactive Protein (CRP) Promoter Region Are Associated with Plasma CRP Levels. Am J Hum Genet77(1):64-77 2005 |
| PubMed ID: 15897982 |
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| Carlson CS, Thomas DJ, Eberle MA, Swanson JE, Livingston RJ, Rieder MJ, Nickerson DA, Genomic regions exhibiting positive selection identified from dense genotype data Genome research15:1553-65 2005 |
| PubMed ID: 16251465 |
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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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| Hinds DA, Stuve LL, Nilsen GB, Halperin E, Eskin E, Ballinger DG, Frazer KA, Cox DR, Whole-genome patterns of common DNA variation in three human populations. Science307(5712):1072-9 2005 |
| PubMed ID: 15718463 |
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| Kouprina N, Pavlicek A, Noskov VN, Solomon G, Otstot J, Isaacs W, Carpten JD, Trent JM, Schleutker J, Barrett JC, Jurka J, Larionov V, Dynamic structure of the SPANX gene cluster mapped to the prostate cancer susceptibility locus HPCX at Xq27 Genome research15:1477-86 2005 |
| PubMed ID: 16251457 |
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| Meza MM, Yu L, Rodriguez YY, Guild M, Thompson D, Gandolfi AJ, Klimecki WT, Developmentally restricted genetic determinants of human arsenic metabolism: association between urinary methylated arsenic and CYT19 polymorphisms in children Environmental health perspectives113:775-81 2005 |
| PubMed ID: 15929903 |
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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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| Ramsey CD, Lazarus R, Camargo CA, Weiss ST, Celedón JC, Polymorphisms in the interleukin 17F gene (IL17F) and asthma Genes and immunity6:236-41 2005 |
| PubMed ID: 15703761 |
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| Akey JM, Eberle MA, Rieder MJ, Carlson CS, Shriver MD, Nickerson DA, Kruglyak L, Population history and natural selection shape patterns of genetic variation in 132 genes. PLoS Biol2(10):e286 2004 |
| PubMed ID: 15361935 |
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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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| Carlson CS, Eberle MA, Rieder MJ, Yi Q, Kruglyak L, Nickerson DA, Selecting a maximally informative set of single-nucleotide polymorphisms for association analyses using linkage disequilibrium. Am J Hum Genet74(1):106-20 2004 |
| PubMed ID: 14681826 |
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| Crawford DC, Bhangale T, Li N, Hellenthal G, Rieder MJ, Nickerson DA, Stephens M, Evidence for substantial fine-scale variation in recombination rates across the human genome. Nat Genet36(7):700-6 2004 |
| PubMed ID: 15184900 |
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| Crawford DC, Carlson CS, Rieder MJ, Carrington DP, Yi Q, Smith JD, Eberle MA, Kruglyak L, Nickerson DA, Haplotype diversity across 100 candidate genes for inflammation, lipid metabolism, and blood pressure regulation in two populations. Am J Hum Genet74(4):610-22 2004 |
| PubMed ID: 15015130 |
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| Ding K, Zhou K, Zhang J, Knight J, Zhang X, Shen Y, The effect of haplotype-block definitions on inference of haplotype-block structure and htSNPs selection Molecular biology and evolution22:148-59 2004 |
| PubMed ID: 15371531 |
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| Randolph AG, Lange C, Silverman EK, Lazarus R, Silverman ES, Raby B, Brown A, Ozonoff A, Richter B, Weiss ST, The IL12B gene is associated with asthma. Am J Hum Genet75(4):709-15 2004 |
| PubMed ID: 15322986 |
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| Tantisira K, Klimecki WT, Lazarus R, Palmer LJ, Raby BA, Kwiatkowski DJ, Silverman E, Vercelli D, Martinez FD, Weiss ST, Toll-like receptor 6 gene (TLR6): single-nucleotide polymorphism frequencies and preliminary association with the diagnosis of asthma. Genes Immun5(5):343-6 2004 |
| PubMed ID: 15266299 |
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| Carlson CS, Eberle MA, Rieder MJ, Smith JD, Kruglyak L, Nickerson DA, Additional SNPs and linkage-disequilibrium analyses are necessary for
whole-genome association studies in humans. Nat Genet33(4):518-21 2003 |
| PubMed ID: 12652300 |
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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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| Yu L, Kalla K, Guthrie E, Vidrine A, Klimecki WT, Genetic variation in genes associated with arsenic metabolism: glutathione S-transferase omega 1-1 and purine nucleoside phosphorylase polymorphisms in European and indigenous Americans Environmental health perspectives111:1421-7 2003 |
| PubMed ID: 12928150 |
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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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| 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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| Lavedan C, Grabczyk E, Usdin K, Nussbaum RL, Long uninterrupted CGG repeats within the first exon of the human FMR1 gene are
not intrinsically unstable in transgenic mice. Genomics50(2):229-40 1998 |
| PubMed ID: 9653650 |
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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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| 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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