GM19240

GM19240 LCL from B-Lymphocyte

Description:

YORUBA IN IBADAN, NIGERIA

Affected:

No Data

Sex:

Female

Age:

No Data

Overview

Repository

NHGRI Sample Repository for Human Genetic Research

Subcollection

NHGRI Sample Repository for Human Genetic Research

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Country of Origin

NIGERIA

Family Member

Relation to Proband

child

Species

Homo sapiens

Common Name

Human

Remarks

Yoruba from Ibadan, Nigeria; all four grandparents are Yoruba

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

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

IDENTIFICATION OF SPECIES OF ORIGIN

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

Phenotypic Data

Remarks

Yoruba from Ibadan, Nigeria; all four grandparents are Yoruba

Publications

Halligan NLN, Hanks SC, Matsuo K, Martins T, Zöllner S, Quasney MW, Scott LJ, Dahmer MK, Variants in the ß-globin locus are associated with pneumonia in African American children HGG advances6:100374 2025

PubMed ID: 39444160

Showpnil IA, E Hernandez Gonzalez M, Ramadesikan S, Marhabaie M, Daley A, Dublin-Ryan L, Pastore MT, Gurusamy U, Hunter JM, Stone BS, Bartholomew DW, Manickam K, Miller AR, Wilson RK, Stottmann RW, Koboldt DC, Long-read genome sequencing resolves complex genomic rearrangements in rare genetic syndromes NPJ genomic medicine9:66 2024

PubMed ID: 39695126

Vollger MR, Dishuck PC, Harvey WT, DeWitt WS, Guitart X, Goldberg ME, Rozanski AN, Lucas J, Asri M, Human Pangenome Reference Consortium M, Munson KM, Lewis AP, Hoekzema K, Logsdon GA, Porubsky D, Paten B, Harris K, Hsieh P, Eichler EE, Increased mutation and gene conversion within human segmental duplications Nature617:325-334 2023

PubMed ID: 37165237

Goodwin PJ, Dowling RJO, Ennis M, Chen BE, Parulekar WR, Shepherd LE, Burnell MJ, Vander Meer R, Molckovsky A, Gurjal A, Gelmon KA, Ligibel JA, Hershman DL, Mayer IA, Whelan TJ, Hobday TJ, Rastogi P, Rabaglio-Poretti M, Lemieux J, Thompson AM, Rea DW, Stambolic V, NPJ breast cancer7:74 2020

PubMed ID: 34103538

Holt CL, Stephens KM, Walichiewicz P, Fleming KD, Forouzmand E, Wu SF, Human Mitochondrial Control Region and mtGenome: Design and Forensic Validation of NGS Multiplexes, Sequencing and Analytical Software Genes12:74 2020

PubMed ID: 33921728

Zeng Q, Leach NT, Zhou Z, Zhu H, Smith JA, Rosenblum LS, Kenyon A, Heim RA, Eisenberg M, Letovsky S, Okamoto PM, A customized scaffolds approach for the detection and phasing of complex variants by next-generation sequencing Scientific reports10:15060 2020

PubMed ID: 32929119

Asherin RM, Everhart KD, Stophaeros SL, Vogeli JM, Fowler J, Phiel CJ, Kaplan PS, Associations between maternal depression and mother and infant oxytocin receptor gene (OXTR_rs53576) polymorphisms Developmental psychobiology10:15060 2019

PubMed ID: 31755553

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

Heft IE, Mostovoy Y, Levy-Sakin M, Ma W, Stevens AJ, Pastor S, McCaffrey J, Boffelli D, Martin DI, Xiao M, Kennedy MA, Kwok PY, Sikela JM, The Driver of Extreme Human-Specific Olduvai Repeat Expansion Remains Highly Active in the Human Genome Genetics257:421-427 2019

PubMed ID: 31754017

Shi X, Radhakrishnan S, Wen J, Chen JY, Chen J, Lam BA, Mills RE, Stranger BE, Lee C, Setlur SR, Association of CNVs with methylation variation NPJ genomic medicine5:41 2019

PubMed ID: 33062306

Twesigomwe D, Wright GEB, Drögemöller BI, da Rocha J, Lombard Z, Hazelhurst S, A systematic comparison of pharmacogene star allele calling bioinformatics algorithms: a focus on NPJ genomic medicine5:30 2019

PubMed ID: 32789024

Audano PA, Sulovari A, Graves-Lindsay TA, Cantsilieris S, Sorensen M, Welch AE, Dougherty ML, Nelson BJ, Shah A, Dutcher SK, Warren WC, Magrini V, McGrath SD, Li YI, Wilson RK, Eichler EE, Characterizing the Major Structural Variant Alleles of the Human Genome Cell176:663-675.e19 2018

PubMed ID: 30661756

Ben Aim L, Pigny P, Castro-Vega LJ, Buffet A, Amar L, Bertherat J, Drui D, Guilhem I, Baudin E, Lussey-Lepoutre C, Corsini C, Chabrier G, Briet C, Faivre L, Cardot-Bauters C, Favier J, Gimenez-Roqueplo AP, Burnichon N, Targeted next-generation sequencing detects rare genetic events in pheochromocytoma and paraganglioma Journal of medical genetics176:663-675.e19 2018

PubMed ID: 30877234

Hadigol M1, Khiabanian H, MERIT reveals the impact of genomic context on sequencing error rate in ultra-deep applications BMC Bioinformatics19:219 2018

PubMed ID: 29884116

Hwang KB, Lee IH, Li H, Won DG, Hernandez-Ferrer C, Negron JA, Kong SW, Comparative analysis of whole-genome sequencing pipelines to minimize false negative findings Scientific reports9:3219 2018

PubMed ID: 30824715

Maggiolini FAM, Cantsilieris S, D'Addabbo P, Manganelli M, Coe BP, Dumont BL, Sanders AD, Pang AWC, Vollger MR, Palumbo O, Palumbo P, Accadia M, Carella M, Eichler EE, Antonacci F, Genomic inversions and GOLGA core duplicons underlie disease instability at the 15q25 locus PLoS genetics15:e1008075 2018

PubMed ID: 30917130

Valsesia A, Kulkarni SS, Marquis J, Leone P, Mironova P, Walter O, Hjorth MF, Descombes P, Hager J, Saris WH, Astrup A, Darimont C, O'Callaghan NJ, Salivary a-amylase copy number is not associated with weight trajectories and glycemic improvements following clinical weight loss: results from a 2-phase dietary intervention study The American journal of clinical nutrition109:1029-1037 2018

PubMed ID: 30982860

Wong KHY1, Levy-Sakin M1, Kwok PY2,3,4., De novo human genome assemblies reveal spectrum of alternative haplotypes in diverse populations Nature Communications9:1029-1037 2018

PubMed ID: 30072691

Numanagic I, Malikic S, Ford M, Qin X, Toji L, Radovich M, Skaar TC, Pratt VM, Berger B, Scherer S, Sahinalp SC, Allelic decomposition and exact genotyping of highly polymorphic and structurally variant genes Nature communications9:828 2017

PubMed ID: 29483503

Dames S, Chou LS, Xiao Y, Wayman T, Stocks J, Singleton M, Eilbeck K, Mao R, The Development of Next-Generation Sequencing Assays for the Mitochondrial Genome and 108 Nuclear Genes Associated with Mitochondrial Disorders The Journal of molecular diagnostics : JMD9:828 2013

PubMed ID: 23665194

Liang WS, Craig DW, Carpten J, Borad MJ, Demeure MJ, Weiss GJ, Izatt T, Sinari S, Christoforides A, Aldrich J, Kurdoglu A, Barrett M, Phillips L, Benson H, Tembe W, Braggio E, Kiefer JA, Legendre C, Posner R, Hostetter GH, Baker A, Egan JB, Han H, Lake D, Stites EC, Ramanathan RK, Fonseca R, Stewart AK, Von Hoff D, Genome-wide characterization of pancreatic adenocarcinoma patients using next generation sequencing PloS one7:e43192 2012

PubMed ID: 23071490

Peters BA1, Kermani BG, Sparks AB, Alferov O, Hong P, Alexeev A, Jiang Y, Dahl F, Tang YT, Haas J, Robasky K, Zaranek AW, Lee JH, Ball MP, Peterson JE, Perazich H, Yeung G, Liu J, Chen L, Kennemer MI, Pothuraju K, Konvicka K, Tsoupko-Sitnikov M, Pant KP, Ebert JC, Nilsen GB, Baccash J, Halpern AL, Church GM, Drmanac R., Accurate whole-genome sequencing and haplotyping from 10 to 20 human cells. Nature487(7406):190-5 2012

PubMed ID: 22785314

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TE, Vielmetter J, Partridge EC, Trout D, Varley KE, Gasper C, Bansal A, Pepke S, Jain P, Amrhein H, Bowling KM, Anaya M, Cross MK, King B, Muratet MA, Antoshechkin I, Newberry KM, McCue K, Nesmith AS, Fisher-Aylor KI, Pusey B, DeSalvo G, Parker SL, Balasubramanian S, Davis NS, Meadows SK, Eggleston T, Gunter C, Newberry JS, Levy SE, Absher DM, Mortazavi A, Wong WH, Wold B, Blow MJ, Visel A, Pennachio LA, Elnitski L, Margulies EH, Parker SC, Petrykowska HM, Abyzov A, Aken B, Barrell D, Barson G, Berry A, Bignell A, Boychenko V, Bussotti G, Chrast J, Davidson C, Derrien T, Despacio-Reyes G, Diekhans M, Ezkurdia I, Frankish A, Gilbert J, Gonzalez JM, Griffiths E, Harte R, Hendrix DA, Howald C, Hunt T, Jungreis I, Kay M, Khurana E, Kokocinski F, Leng J, Lin MF, Loveland J, Lu Z, Manthravadi D, Mariotti M, Mudge J, Mukherjee G, Notredame C, Pei B, Rodriguez JM, Saunders G, Sboner A, Searle S, Sisu C, Snow C, Steward C, Tanzer A, Tapanan E, Tress ML, van Baren MJ, Walters N, Washieti S, 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S, Hoeckendorf B, Inoue D, Kellner T, Kirchmaier S, Mueller C, Reinhardt R, Schertel L, Schneider S, Sinn R, Wittbrodt B, Wittbrodt J, Weng Z, Whitfield TW, Wang J, Collins PJ, Aldred SF, Trinklein ND, Partridge EC, Myers RM, Dekker J, Jain G, Lajoie BR, Sanyal A, Balasundaram G, Bates DL, Byron R, Canfield TK, Diegel MJ, Dunn D, Ebersol AK, Ebersol AK, Frum T, Garg K, Gist E, Hansen RS, Boatman L, Haugen E, Humbert R, Jain G, Johnson AK, Johnson EM, Kutyavin TM, Lajoie BR, Lee K, Lotakis D, Maurano MT, Neph SJ, Neri FV, Nguyen ED, Qu H, Reynolds AP, Roach V, Rynes E, Sabo P, Sanchez ME, Sandstrom RS, Sanyal A, Shafer AO, Stergachis AB, Thomas S, Thurman RE, Vernot B, Vierstra J, Vong S, Wang H, Weaver MA, Yan Y, Zhang M, Akey JA, Bender M, Dorschner MO, Groudine M, MacCoss MJ, Navas P, Stamatoyannopoulos G, Kaul R, Dekker J, Stamatoyannopoulos JA, Dunham I, Beal K, Brazma A, Flicek P, Herrero J, Johnson N, Keefe D, Lukk M, Luscombe NM, Sobral D, Vaquerizas JM, Wilder SP, Batzoglou S, Sidow A, Hussami N, Kyriazopoulou-Panagiotopoulou S, Libbrecht MW, Schaub MA, Kundaje A, Hardison RC, Miller W, Giardine B, Harris RS, Wu W, Bickel PJ, Banfai B, Boley NP, Brown JB, Huang H, Li Q, Li JJ, Noble WS, Bilmes JA, Buske OJ, Hoffman MM, Sahu AO, Kharchenko PV, Park PJ, Baker D, Taylor J, Weng Z, Iyer S, Dong X, Greven M, Lin X, Wang J, Xi HS, Zhuang J, Gerstein M, Alexander RP, Balasubramanian S, Cheng C, Harmanci A, Lochovsky L, Min R, Mu XJ, Rozowsky J, Yan KK, Yip KY, Birney E, An integrated encyclopedia of DNA elements in the human genome Nature489:57-74 2011

PubMed ID: 22955616

Beck CR, Collier P, Macfarlane C, Malig M, Kidd JM, Eichler EE, Badge RM, Moran JV, LINE-1 retrotransposition activity in human genomes Cell141:1159-70 2010

PubMed ID: 20602998

Drmanac R1, Sparks AB, Callow MJ, Halpern AL, Burns NL, Kermani BG, Carnevali P, Nazarenko I, Nilsen GB, Yeung G, Dahl F, Fernandez A, Staker B, Pant KP, Baccash J, Borcherding AP, Brownley A, Cedeno R, Chen L, Chernikoff D, Cheung A, Chirita R, Curson B, Ebert JC, Hacker CR, Hartlage R, Hauser B, Huang S, Jiang Y, Karpinchyk V, Koenig M, Kong C, Landers T, Le C, Liu J, McBride CE, Morenzoni M, Morey RE, Mutch K, Perazich H, Perry K, Peters BA, Peterson J, Pethiyagoda CL, Pothuraju K, Richter C, Rosenbaum AM, Roy S, Shafto J, Sharanhovich U, Shannon KW, Sheppy CG, Sun M, Thakuria JV, Tran A, Vu D, Zaranek AW, Wu X, Drmanac S, Oliphant AR, Banyai WC, Martin B, Ballinger DG, Church GM, Reid CA., Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays. Science327(5961):78-81 2010

PubMed ID: 19892942

Ewing AD, Kazazian HH, High-throughput sequencing reveals extensive variation in human-specific L1 content in individual human genomes Genome research20:1262-70 2010

PubMed ID: 20488934

McDaniell R, Lee BK, Song L, Liu Z, Boyle AP, Erdos MR, Scott LJ, Morken MA, Kucera KS, Battenhouse A, Keefe D, Collins FS, Willard HF, Lieb JD, Furey TS, Crawford GE, Iyer VR, Birney E, Heritable individual-specific and allele-specific chromatin signatures in humans Science (New York, NY)328:235-9 2010

PubMed ID: 20299549

Antonacci F, Kidd JM, Marques-Bonet T, Ventura M, Siswara P, Jiang Z, Eichler EE, Characterization of six human disease-associated inversion polymorphisms Human molecular genetics328:235-9 2009

PubMed ID: 19383631

Ng SB, Turner EH, Robertson PD, Flygare SD, Bigham AW, Lee C, Shaffer T, Wong M, Bhattacharjee A, Eichler EE, Bamshad M, Nickerson DA, and Shendure J. , Targeted capture and massively parallel sequencing of twelve human exomes Nature461(7261):272-276 2009

PubMed ID: 19684571

Park H, Kim JI, Ju YS, Gokcumen O, Mills RE, Kim S, Lee S, Suh D, Hong D, Kang HP, Yoo YJ, Shin JY, Kim HJ, Yavartanoo M, Chang YW, Ha JS, Chong W, Hwang GR, Darvishi K, Kim H, Yang SJ, Yang KS, Kim H, Hurles ME, Scherer SW, Carter NP, Tyler-Smith C, Lee C, Seo JS, Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing Nature genetics42:400-5 2009

PubMed ID: 20364138

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

Bovee D, Zhou Y, Haugen E, Wu Z, Hayden HS, Gillett W, Tuzun E, Cooper GM, Sampas N, Phelps K, Levy R, Morrison VA, Sprague J, Jewett D, Buckley D, Subramaniam S, Chang J, Smith DR, Olson MV, Eichler EE, Kaul R, Closing gaps in the human genome with fosmid resources generated from multiple individuals Nature genetics40:96-101 2007

PubMed ID: 18157130

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PubMed ID: 17327435

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PubMed ID: 18451855

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PubMed ID: 18237385

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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PubMed ID: 17122850

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PubMed ID: 16255080