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Cellosaurus GM07357 (CVCL_9595)

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Cell line name GM07357
Accession CVCL_9595
Resource Identification Initiative To cite this cell line use: GM07357 (RRID:CVCL_9595)
Comments Part of: CEPH/Utah pedigree cell line collection.
Part of: International Genome Sample Resource (1000 genomes project) cell lines.
Registration: CEPH Families Reference Panel; 134512.
Population: Caucasian; Utah residents with ancestry from Northern and Western Europe.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Omics: Genomics; ChIP-seq; H3K27ac.
Omics: Genomics; ChIP-seq; H3K4me1.
Omics: Genomics; ChIP-seq; H3K4me3.
Omics: Genomics; ChIP-seq; RPB2.
Omics: Genomics; ChIP-seq; SPI1.
Omics: Genomics; Whole genome sequencing.
Omics: Proteomics.
Omics: Transcriptomics; CAGE-seq.
Omics: Transcriptomics; Microarray.
Omics: Transcriptomics; RNAseq.
Omics: Variations; CNV analysis.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:2621; CYP2C19; Simple; p.Pro227Pro (c.681G>A); ClinVar=VCV000016897; Zygosity=Unspecified; Note=Cryptic splice acceptor activation. CYP2C19*2 allele (Coriell=GM07357).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 69Y
Category Transformed cell line
Web pages Info; CEPH; -; https://www.cephb.fr/en/familles_CEPH.php
Info; Complete Genomics; -; https://web.archive.org/web/20220626143727/http://www.completegenomics.com/documents/PublicGenomes.pdf
Publications

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

PubMed=15514893; DOI=10.1086/426461; PMCID=PMC1182144
Stephanie Ann Santorico, Amy S. Leonardson, Hao-Yuan Zhu, Paige E. Cundiff, Przemyslaw Pietrusiak, Steve Edwards, John W. Phillips, Alan B. Sachs, Eric Emil Schadt;
Genetic inheritance of gene expression in human cell lines.
Am. J. Hum. Genet. 75:1094-1105(2004)

PubMed=17122850; DOI=10.1038/nature05329; PMCID=PMC2669898
Richard Redon, Shumpei Ishikawa, Karen R. Fitch, Lars Feuk, George H. Perry, T. Daniel Andrews, Heike Fiegler, Michael H. Shapero, Andrew R. Carson, Wen-Wei Chen, Eun Kyung Cho ...Show all 43 authors... , Stephanie Dallaire, Jennifer L. Freeman, Juan R. Gonzalez, Monica Gratacos, Jing Huang, Dimitrios Kalaitzopoulos, Daisuke Komura, Jeffrey R. MacDonald, Christian R. Marshall, Rui Mei, Lyndal Montgomery, Kunihiro Nishimura, Kohji Okamura, Fan Shen, Martin John Somerville, Joelle Tchinda, Armand Valsesia, Cara Woodwark, Feng-Tang Yang, Jun-Jun Zhang, Tatiana Zerjal, Jane Zhang, Lluis Armengol, Donald F. Conrad, Xavier Estivill, Chris Tyler-Smith, Nigel P. Carter, Hiroyuki Aburatani, Charles Lee, Keith W. Jones, Stephen Wayne Scherer, Matthew Edward Hurles; Show fewer authors
Global variation in copy number in the human genome.
Nature 444:444-454(2006)

PubMed=19043577; DOI=10.1371/journal.pgen.1000287; PMCID=PMC2583954
Edwin Choy, Roman Yelensky, Sasha Bonakdar, Robert M. Plenge, Richa Saxena, Philip Lawrence De Jager, Stanley Y. Shaw, Cara Susan Wolfish, Jacqueline M. Slavik, Chris Cotsapas, Manuel A. Rivas ...Show all 17 authors... , Emmanouil Theophilos Dermitzakis, Ellen Cahir-McFarland, Elliott Dan Kieff, David A. Hafler, Mark Joseph Daly, David Matthew Altshuler; Show fewer authors
Genetic analysis of human traits in vitro: drug response and gene expression in lymphoblastoid cell lines.
PLoS Genet. 4:e1000287.1-e1000287.16(2008)

PubMed=19797678; DOI=10.1101/gr.097600.109; PMCID=PMC2775589
Renuka R. Nayak, Michael Justin Kearns, Richard Saul Spielman, Vivian G. Cheung;
Coexpression network based on natural variation in human gene expression reveals gene interactions and functions.
Genome Res. 19:1953-1962(2009)

PubMed=20398888; DOI=10.1016/j.ajhg.2010.03.017; PMCID=PMC2869002
Beth A. Dombroski, Renuka R. Nayak, Kathryn G. Ewens, Wendy Ankener, Vivian G. Cheung, Richard Saul Spielman;
Gene expression and genetic variation in response to endoplasmic reticulum stress in human cells.
Am. J. Hum. Genet. 86:719-729(2010)

PubMed=20856902; DOI=10.1371/journal.pbio.1000480; PMCID=PMC2939022
Vivian G. Cheung, Renuka R. Nayak, Isabel Xiao-Rong Wang, Susannah Elwyn, Sarah M. Cousins, Michael Morley, Richard Saul Spielman;
Polymorphic cis- and trans-regulation of human gene expression.
PLoS Biol. 8:e1000480.1-e1000480.14(2010)

PubMed=21397061; DOI=10.1016/j.ajhg.2011.02.004; PMCID=PMC3059424
Catarina D. Campbell, Nick Sampas, Anya Tsalenko, Peter H. Sudmant, Jeffrey M. Kidd, Maika Malig, Tiffany H. Vu, Laura Vives, Peter Tsang, Laurakay Bruhn, Evan E. Eichler;
Population-genetic properties of differentiated human copy-number polymorphisms.
Am. J. Hum. Genet. 88:317-332(2011)

PubMed=23676674; DOI=10.1038/nature12223; PMCID=PMC3789121
Lin-Feng Wu, Sophie I. Candille, Yoonha Choi, Dan Xie, Li-Hua Jiang, Jennifer Li-Pook-Than, Hua Tang, Michael P. Snyder;
Variation and genetic control of protein abundance in humans.
Nature 499:79-82(2013)

PubMed=24037378; DOI=10.1038/nature12531; PMCID=PMC3918453
Tuuli Lappalainen, Michael Sammeth, Marc R. Friedlander, Peter A.C. 't Hoen, Jean Monlong, Manuel A. Rivas, Mar Gonzalez-Porta, Natalja Kurbatova, Thasso Griebel, Pedro G. Ferreira, Matthias Barann ...Show all 57 authors... , Thomas Wieland, Liliana Greger, Maarten van Iterson, Jonas Carlsson Almlof, Paolo Ribeca, Irina Pulyakhina, Daniela Esser, Thomas Giger, Andrew Tikhonov, Marc Sultan, Gabrielle Bertier, Daniel G. MacArthur, Monkol Lek, Esther Lizano, Henk P.J. Buermans, Ismael Padioleau, Thomas Schwarzmayr, Olof Karlberg, Halit Ongen, Helena Kilpinen, Sergi Beltran, Marta Gut, Katja Kahlem, Vyacheslav Amstislavskiy, Oliver Stegle, Matti Pirinen, Stephen B. Montgomery, Peter Donnelly, Mark I. McCarthy, Paul Flicek, Tim-Matthias Strom, Hans Lehrach, Stefan Schreiber, Ralf Sudbrak, Angel Carracedo, Stylianos E. Antonarakis, Robert Hasler, Ann-Christine Syvanen, Gert-Jan B. van Ommen, Alvis Brazma, Thomas Meitinger, Philip Rosenstiel, Roderic Guigo, Ivo G. Gut, Xavier Estivill, Emmanouil Theophilos Dermitzakis; Show fewer authors
Geuvadis Consortium
Transcriptome and genome sequencing uncovers functional variation in humans.
Nature 501:506-511(2013)

PubMed=24924344; DOI=10.1186/1756-0500-7-360; PMCID=PMC4068968
Gunjan D. Hariani, Ernest J. Lam, Tammy M. Havener, Pui-Yan Kwok, Howard L. McLeod, Michael J. Wagner, Alison Anne Motsinger-Reif;
Application of next generation sequencing to CEPH cell lines to discover variants associated with FDA approved chemotherapeutics.
BMC Res. Notes 7:360.1-360.10(2014)

PubMed=26621101; DOI=10.1016/j.jmoldx.2015.08.005; PMCID=PMC4695224
Victoria M. Pratt, Robin E. Everts, Praful Aggarwal, Brittany N. Beyer, Ulrich Broeckel, Ruth Epstein-Baak, Paul Hujsak, Ruth Kornreich, Jun Liao, Rachel Lorier, Stuart A. Scott ...Show all 15 authors... , Ching-Ying Huang Smith, Lorraine H. Toji, Amy Turner, Lisa V. Kalman; Show fewer authors
Characterization of 137 genomic DNA reference materials for 28 pharmacogenetic genes: a GeT-RM collaborative project.
J. Mol. Diagn. 18:109-123(2016)

PubMed=27617755; DOI=10.1038/srep32406; PMCID=PMC5019111
Pedro G. Ferreira, Martin Oti, Matthias Barann, Thomas Wieland, Suzana Ezquina, Marc R. Friedlander, Manuel A. Rivas, Anna Esteve-Codina, Philip Rosenstiel, Tim-Matthias Strom, Tuuli Lappalainen ...Show all 13 authors... , Roderic Guigo, Michael Sammeth; Show fewer authors
Geuvadis Consortium
Sequence variation between 462 human individuals fine-tunes functional sites of RNA processing.
Sci. Rep. 6:32406-32406(2016)

PubMed=29116076; DOI=10.1038/s41467-017-01467-7; PMCID=PMC5677018
Marco Garieri, Olivier Delaneau, Federico Andrea Santoni, Richard J. Fish, David Mull, Piero Carninci, Emmanouil Theophilos Dermitzakis, Stylianos E. Antonarakis, Alexandre Fort;
The effect of genetic variation on promoter usage and enhancer activity.
Nat. Commun. 8:1358.1-1358.9(2017)

PubMed=31048460; DOI=10.1126/science.aat8266
Olivier Delaneau, Marianna Zazhytska, Christelle Borel, Giuliana Giannuzzi, Guillaume Rey, Cedric Howald, Sunil Kumar, Halit Ongen, Konstantin Y. Popadin, Daniel Marbach, Giovanna Ambrosini ...Show all 22 authors... , Deborah Bielser, David Lynn Hacker, Luciana Romano, Pascale Ribaux, Michael Wiederkehr, Emilie Falconnet, Philipp Bucher, Sven Bergmann, Stylianos E. Antonarakis, Alexandre Reymond, Emmanouil Theophilos Dermitzakis; Show fewer authors
Chromatin three-dimensional interactions mediate genetic effects on gene expression.
Science 364:eaat8266.1-eaat8266.10(2019)

Cross-references
Cell line collections (Providers) Coriell; GM07357
Cell line databases/resources CLO; CLO_0016947
Biological sample resources IGSR; NA07357
Encyclopedic resources Wikidata; Q54842688
Experimental variables resources EFO; EFO_0001116
Gene expression databases ArrayExpress; E-GEUV-1
ArrayExpress; E-GEUV-2
ArrayExpress; E-GEUV-3
ArrayExpress; E-MTAB-3656
ArrayExpress; E-MTAB-3657
ArrayExpress; E-MTAB-5835
GEO; GSM25426
GEO; GSM25427
GEO; GSM30031
GEO; GSM112493
GEO; GSM112773
GEO; GSM188743
GEO; GSM273289
GEO; GSM273290
GEO; GSM291601
GEO; GSM291602
GEO; GSM314858
GEO; GSM314859
GEO; GSM420582
GEO; GSM420583
GEO; GSM486753
GEO; GSM486754
GEO; GSM648836
GEO; GSM649850
GEO; GSM659955
GEO; GSM660158
GEO; GSM660365
GEO; GSM905829
GEO; GSM905924
GEO; GSM906019
GEO; GSM1719750
Entry history
Entry creation06-Jun-2012
Last entry update10-Apr-2025
Version number30