Description:
CEPH/UTAH PEDIGREE 1340
INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE I) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE]
CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19
INTERNATIONAL HAPMAP PROJECT - CEPH [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE]
NA CUSTOM SERVICE PLATE 01
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
CEPH
Repository Linkage Families
Pharmacogenetics
PIGI Consented Sample |
| 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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Country of Origin
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USA
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Family Member
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9
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Relation to Proband
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paternal grandfather
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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 and Glucose-6-Phosphate Dehydrogenase Isoenzyme Electrophoresis |
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| Remarks |
Paternal Grandfather |
| Xavier C, de la Puente M, Mosquera-Miguel A, Freire-Aradas A, Kalamara V, Ralf A, Revoir A, Gross TE, Schneider PM, Ames C, Hohoff C, Phillips C, Kayser M, Parson W, VISAGE Consortium W, Development and inter-laboratory evaluation of the VISAGE Enhanced Tool for Appearance and Ancestry inference from DNA Forensic science international Genetics61:102779 2022 |
| PubMed ID: 36182793 |
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| de la Puente M, Ruiz-Ramírez J, Ambroa-Conde A, Xavier C, Pardo-Seco J, Álvarez-Dios J, Freire-Aradas A, Mosquera-Miguel A, Gross TE, Cheung EYY, Branicki W, Nothnagel M, Parson W, Schneider PM, Kayser M, Carracedo Á, Lareu MV, Phillips C, On Behalf Of The Visage Consortium C, Development and Evaluation of the Ancestry Informative Marker Panel of the VISAGE Basic Tool Genes12:102779 2021 |
| PubMed ID: 34440458 |
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| Dubé MP, Lemaçon A, Barhdadi A, Lemieux Perreault LP, Oussaïd E, Asselin G, Provost S, Sun M, Sandoval J, Legault MA, Mongrain I, Dubois A, Valois D, Dedelis E, Lousky J, Choi J, Goulet E, Savard C, Chicoine LM, Cossette M, Chabot-Blanchet M, Guertin MC, de Denus S, Bouabdallaoui N, Marchand R, Bassevitch Z, Nozza A, Gaudet D, L'Allier PL, Hussin J, Boivin G, Busseuil D, Tardif JC, Genetics of symptom remission in outpatients with COVID-19 Scientific reports11:10847 2021 |
| PubMed ID: 34035401 |
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| Xavier C, de la Puente M, Sidstedt M, Junker K, Minawi A, Unterländer M, Chantrel Y, Laurent FX, Delest A, Hohoff C, Bastisch I, Hedman J, van der Gaag KJ, Sijen T, Parson W, Evaluation of the VISAGE basic tool for appearance and ancestry inference using ForenSeq® chemistry on the MiSeq FGx® system Forensic science international Genetics58:102675 2021 |
| PubMed ID: 35144074 |
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| Dong Z, Chau MHK, Zhang Y, Yang Z, Shi M, Wah YM, Kwok YK, Leung TY, Morton CC, Choy KW, Low-pass genome sequencing-based detection of absence of heterozygosity: validation in clinical cytogenetics Genetics in medicine : official journal of the American College of Medical Genetics23:1225-1233 2020 |
| PubMed ID: 33772221 |
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| Ebert P, Audano PA, Zhu Q, Rodriguez-Martin B, Porubsky D, Bonder MJ, Sulovari A, Ebler J, Zhou W, Serra Mari R, Yilmaz F, Zhao X, Hsieh P, Lee J, Kumar S, Lin J, Rausch T, Chen Y, Ren J, Santamarina M, Höps W, Ashraf H, Chuang NT, Yang X, Munson KM, Lewis AP, Fairley S, Tallon LJ, Clarke WE, Basile AO, Byrska-Bishop M, Corvelo A, Evani US, Lu TY, Chaisson MJP, Chen J, Li C, Brand H, Wenger AM, Ghareghani M, Harvey WT, Raeder B, Hasenfeld P, Regier AA, Abel HJ, Hall IM, Flicek P, Stegle O, Gerstein MB, Tubio JMC, Mu Z, Li YI, Shi X, Hastie AR, Ye K, Chong Z, Sanders AD, Zody MC, Talkowski ME, Mills RE, Devine SE, Lee C, Korbel JO, Marschall T, Eichler EE, Haplotype-resolved diverse human genomes and integrated analysis of structural variation Science (New York, NY)372:1225-1233 2020 |
| PubMed ID: 33632895 |
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| Fløyel T, Meyerovich K, Prause MC, Kaur S, Frørup C, Mortensen HB, Nielsen LB, Pociot F, Cardozo AK, Størling J, SKAP2, a Candidate Gene for Type 1 Diabetes, Regulates ß-Cell Apoptosis and Glycaemic Control in Newly Diagnosed Patients Diabetes372:1225-1233 2020 |
| PubMed ID: 33203694 |
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| Palencia-Madrid L, Xavier C, de la Puente M, Hohoff C, Phillips C, Kayser M, Parson W, Evaluation of the VISAGE Basic Tool for Appearance and Ancestry Prediction Using PowerSeq Chemistry on the MiSeq FGx System Genes11:1225-1233 2020 |
| PubMed ID: 32604780 |
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| Uppugunduri CRS, Huezo-Diaz Curtis P, Nava T, Rezgui MA, Mlakar V, Mlakar SJ, Waespe N, Théoret Y, Gumy-Pause F, Bernard F, Chalandon Y, Boelens JJ, Bredius RGM, Dalle JH, Nath C, Corbacioglu S, Peters C, Bader P, Shaw P, Bittencourt H, Krajinovic M, Ansari M, Association study of candidate DNA-repair gene variants and acute graft versus host disease in pediatric patients receiving allogeneic hematopoietic stem-cell transplantation The pharmacogenomics journal22:9-18 2020 |
| PubMed ID: 34711928 |
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| Chan W, Lee M, Yeo ZX, Ying D, Grimaldi KA, Pickering C, Yang MMS, Sundaram SK, Tzang LCH, Development and validation of next generation sequencing based 35-gene hereditary cancer panel Hereditary cancer in clinical practice18:9 2019 |
| PubMed ID: 32368312 |
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| de la Puente M, Phillips C, Xavier C, Amigo J, Carracedo A, Parson W, Lareu MV, Building a custom large-scale panel of novel microhaplotypes for forensic identification using MiSeq and Ion S5 massively parallel sequencing systems Forensic science international Genetics45:102213 2019 |
| PubMed ID: 31835179 |
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| Handley ED, Warmingham JM, Rogosch FA, Cicchetti D, Infancy onset maltreatment and the development of suicide ideation: An investigation of moderation by oxytocin-related gene polymorphisms Journal of affective disorders257:421-427 2019 |
| PubMed ID: 31306993 |
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| Nieman DC, Simonson A, Sakaguchi CA, Sha W, Blevins T, Hattabaugh J, Kohlmeier M, Acute Ingestion of a Mixed Flavonoid and Caffeine Supplement Increases Energy Expenditure and Fat Oxidation in Adult Women: A Randomized, Crossover Clinical Trial Nutrients11:421-427 2019 |
| PubMed ID: 31694152 |
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| Phillips C, McNevin D, Kidd KK, Lagacé R, Wootton S, de la Puente M, Freire-Aradas A, Mosquera-Miguel A, Eduardoff M, Gross T, Dagostino L, Power D, Olson S, Hashiyada M, Oz C, Parson W, Schneider PM, Lareu MV, Daniel R, MAPlex - A massively parallel sequencing ancestry analysis multiplex for Asia-Pacific populations Forensic science international Genetics42:213-226 2019 |
| PubMed ID: 31377479 |
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| Williams GR, Cook L, Lewis LD, Tsongalis GJ, Nerenz RD, Clinical Validation of a 106-SNV MALDI-ToF MS Pharmacogenomic Panel The journal of applied laboratory medicine5:454-466 2019 |
| PubMed ID: 32445367 |
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| Giner-Delgado C, Villatoro S, Lerga-Jaso J, Gayà-Vidal M, Oliva M, Castellano D, Pantano L, Bitarello BD, Izquierdo D, Noguera I, Olalde I, Delprat A, Blancher A, Lalueza-Fox C, Esko T, O'Reilly PF, Andrés AM, Ferretti L, Puig M, Cáceres M, Evolutionary and functional impact of common polymorphic inversions in the human genome Nature communications10:4222 2018 |
| PubMed ID: 31530810 |
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| Luzum JA, English JD, Ahmad US, Sun JW, Canan BD, Sadee W, Kitzmiller JP, Binkley PF, Association of Genetic Polymorphisms in the Beta-1 Adrenergic Receptor with Recovery of Left Ventricular Ejection Fraction in Patients with Heart Failure Journal of cardiovascular translational research12:280-289 2018 |
| PubMed ID: 30756358 |
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| Gamazon ER, Trendowski MR, Wen Y, Wing C, Delaney SM, Huh W, Wong S, Cox NJ, Dolan ME, Gene and MicroRNA Perturbations of Cellular Response to Pemetrexed Implicate Biological Networks and Enable Imputation of Response in Lung Adenocarcinoma Scientific reports8:733 2017 |
| PubMed ID: 29335598 |
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| 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 |
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| Moreno-Estrada A, Aparicio-Prat E, Sikora M, Engelken J, Ramírez-Soriano A, Calafell F, Bosch E, African signatures of recent positive selection in human FOXI1 BMC evolutionary biology10:267 2010 |
| PubMed ID: 20809947 |
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| Khil PP, Camerini-Otero RD, Genetic crossovers are predicted accurately by the computed human recombination map PLoS genetics6:e1000831 2009 |
| PubMed ID: 20126534 |
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| 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 |
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| Riethman H, Human subtelomeric copy number variations Cytogenetic and genome research123:244-52 2008 |
| PubMed ID: 19287161 |
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| 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 |
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| 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 |
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| Merla G, Howald C, Henrichsen CN, Lyle R, Wyss C, Zabot MT, Antonarakis SE, Reymond A, Submicroscopic deletion in patients with williams-beuren syndrome influences expression levels of the nonhemizygous flanking genes American journal of human genetics79:332-41 2006 |
| PubMed ID: 16826523 |
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| 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 |
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| 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 |
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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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| 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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| Sabeti PC, Walsh E, Schaffner SF, Varilly P, Fry B, Hutcheson HB, Cullen M, Mikkelsen TS, Roy J, Patterson N, Cooper R, Reich D, Altshuler D, O'Brien S, Lander ES, The case for selection at CCR5-Delta32 PLoS biology3:e378 2005 |
| PubMed ID: 16248677 |
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| Walsh EC, Sabeti P, Hutcheson HB, Fry B, Schaffner SF, de Bakker PI, Varilly P, Palma AA, Roy J, Cooper R, Winkler C, Zeng Y, de The G, Lander ES, O'brien S, Altshuler D, Searching for signals of evolutionary selection in 168 genes related to immune function Human genetics119:92-102 2005 |
| PubMed ID: 16362345 |
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| Yakub I, Lillibridge KM, Moran A, Gonzalez OY, Belmont J, Gibbs RA, Tweardy DJ, Single nucleotide polymorphisms in genes for 2'-5'-oligoadenylate synthetase and RNase L inpatients hospitalized with West Nile virus infection The Journal of infectious diseases192:1741-8 2005 |
| PubMed ID: 16235172 |
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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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| Furman I, Rieder MJ, Da Ponte S, Carrington DP, Nickerson DA, Kruglyak L, Markianos K, Sequence-based linkage analysis. Am J Hum Genet75(4):647-53 2004 |
| PubMed ID: 15329798 |
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| 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 |
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| Norman PJ, Cook MA, Carey BS, Carrington CV, Verity DH, Hameed K, Ramdath DD, Chandanayingyong D, Leppert M, Stephens HA, Vaughan RW, SNP haplotypes and allele frequencies show evidence for disruptive and balancing selection in the human leukocyte receptor complex Immunogenetics56:225-37 2004 |
| PubMed ID: 15185041 |
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| Hall MA, Norman PJ, Thiel B, Tiwari H, Peiffer A, Vaughan RW, Prescott S, Leppert M, Schork NJ, Lanchbury JS, Quantitative trait loci on chromosomes 1, 2, 3, 4, 8, 9, 11, 12, and 18 control variation in levels of T and B lymphocyte subpopulations. Am J Hum Genet70(5):1172-82 2002 |
| PubMed ID: 11951176 |
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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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| 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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| PubMed ID: 2895980 |
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| Bufton L, Bruns GA, Magenis RE, Tomar D, Shaw D, Brook D, Litt M, Four restriction fragment length polymorphisms revealed by probes from a single cosmid map to chromosome 19. Am J Hum Genet38:447-60 1986 |
| PubMed ID: 3010711 |
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| PubMed ID: 3002956 |
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| Huang LS, Miller DA, Bruns GA, Breslow JL, Mapping of the human APOB gene to chromosome 2p and demonstration of a two-allele restriction fragment length polymorphism. Proc Natl Acad Sci U S A83:644-8 1986 |
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