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Cellosaurus GM12874 (CVCL_9628)

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Cell line name GM12874
Accession CVCL_9628
Resource Identification Initiative To cite this cell line use: GM12874 (RRID:CVCL_9628)
Comments Part of: CEPH/Utah pedigree cell line collection.
Part of: ENCODE project common cell types; tier 3.
Part of: International Genome Sample Resource (1000 genomes project) cell lines.
Registration: CEPH Families Reference Panel; 145810/145911.
Population: Caucasian; Utah residents with ancestry from Northern and Western Europe.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Omics: Genomics; ChIP-seq; CTCF.
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=GM12874).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_5E78 ! GM12840
Sex of cell Male
Age at sampling Age unspecified
Category Transformed cell line
Web pages Info; CEPH; -; https://www.cephb.fr/en/familles_CEPH.php
Info; ENCODE; -; http://genome.ucsc.edu/ENCODE/protocols/cell/human/GM12874_Stam_protocol.pdf
Publications

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=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)

Cross-references
Cell line collections (Providers) Coriell; GM12874
Cell line databases/resources CLO; CLO_0022838
Biological sample resources BioSample; SAMN00801880
ENCODE; ENCBS018FUP
ENCODE; ENCBS218AAA
ENCODE; ENCBS790RFB
IGSR; NA12874
Encyclopedic resources Wikidata; Q54846171
Experimental variables resources EFO; EFO_0001161
Gene expression databases ArrayExpress; E-GEUV-1
ArrayExpress; E-GEUV-2
ArrayExpress; E-GEUV-3
ArrayExpress; E-MTAB-5835
GEO; GSM25684
GEO; GSM25685
GEO; GSM112566
GEO; GSM112869
GEO; GSM188845
GEO; GSM273366
GEO; GSM273367
GEO; GSM291696
GEO; GSM315031
GEO; GSM315032
GEO; GSM421088
GEO; GSM421089
GEO; GSM424359
GEO; GSM486851
GEO; GSM486852
GEO; GSM648857
GEO; GSM659994
GEO; GSM660173
GEO; GSM660405
GEO; GSM749741
GEO; GSM749742
GEO; GSM749757
GEO; GSM905903
GEO; GSM905998
GEO; GSM906093
GEO; GSM957395
GEO; GSM1719834
Entry history
Entry creation06-Jun-2012
Last entry update10-Apr-2025
Version number31