GM11882

GM11882 LCL from B-Lymphocyte

Description:

CEPH/UTAH PEDIGREE 1347
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

Affected:

No Data

Sex:

Female

Age:

No Data

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

CEPH
Repository Linkage Families
Pharmacogenetics
PIGI Consented Sample
dbGaP

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Race

White

Ethnicity

UTAH/MORMON

Country of Origin

USA

Family Member

Relation to Proband

maternal grandmother

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

Maternal Grandmother

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis

Phenotypic Data

Remarks

Maternal Grandmother

Publications

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: 2020

PubMed ID: 33632895

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: 2020

PubMed ID: 33203694

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

Waksmunski AR, Igo RP, Song YE, Cooke Bailey JN, Laux R, Fuzzell D, Fuzzell S, Adams LD, Caywood L, Prough M, Stambolian D, Scott WK, Pericak-Vance MA, Haines JL, Rare variants and loci for age-related macular degeneration in the Ohio and Indiana Amish Human genetics22:9-18 2019

PubMed ID: 31367973

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

Wall JD, Jiang R, Gignoux C, Chen GK, Eng C, Huntsman S, Marjoram P, Genetic variation in Native Americans, inferred from Latino SNP and resequencing data Molecular biology and evolution28:2231-7 2011

PubMed ID: 21368315

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

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

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

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

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

Crawford DC, Nord AS, Badzioch MD, Ranchalis J, McKinstry LA, Ahearn M, Bertucci C, Shephard C, Wong M, Rieder MJ, Schellenberg GD, Nickerson DA, Heagerty PJ, Wijsman EM, Jarvik GP, A common VLDLR polymorphism interacts with APOE genotype in the prediction of carotid artery disease risk Journal of lipid research49:588-96 2007

PubMed ID: 18056683

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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