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Cellosaurus GM12044 (CVCL_9605)

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Cell line name GM12044
Synonyms CEPH-1346-NA12044; 1346-8363
Accession CVCL_9605
Secondary accession CVCL_G456
Resource Identification Initiative To cite this cell line use: GM12044 (RRID:CVCL_9605)
Comments Part of: CEPH/Utah pedigree cell line collection.
Part of: International Genome Sample Resource (1000 genomes project) cell lines.
Part of: International Histocompatibility Workshop cell lines.
Registration: CEPH Families Reference Panel; 134612.
Population: Caucasian; Utah residents with ancestry from Northern and Western Europe.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
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.
Cell type: B-cell; CL=CL_0000236.
HLA typing Source: IPD-IMGT/HLA=25884
Class I
HLA-AA*01:01,02:01
HLA-BB*07:02,07:02
HLA-CC*07:02,07:02
Class II
HLA-DPDPA1*01:03,01:03
DPB1*02:01:02,04:01
HLA-DQDQA1*01:02,01:03
DQB1*06:02,06:03
HLA-DRDRB1*13:01,15:01
DRB3*01
DRB5*01
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling Age unspecified
Category Transformed cell line
Web pages Info; CEPH; -; https://www.cephb.fr/en/familles_CEPH.php
Publications

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=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=35931342; DOI=10.1016/j.jmoldx.2022.06.008; PMCID=PMC9554816
Victoria M. Pratt, Wendy Y. Wang, Erin C. Boone, Ulrich Broeckel, Neal Cody, Lisa J. Edelmann, Andrea Gaedigk, Tyler C. Lynnes, Elizabeth Medeiros, Ann M. Moyer, Matthew M. Mitchell ...Show all 15 authors... , Stuart A. Scott, Petr Starostik, Amy Turner, Lisa V. Kalman; Show fewer authors
Characterization of reference materials for TPMT and NUDT15: a GeT-RM collaborative project.
J. Mol. Diagn. 24:1079-1088(2022)

Cross-references
Cell line collections (Providers) Coriell; GM12044
Cell line databases/resources CLO; CLO_0020425
dbMHC; 48621
IHW; IHW01086
IPD-IMGT/HLA; 25884
Biological sample resources BioSample; SAMN00801101
IGSR; NA12044
Encyclopedic resources Wikidata; Q54845477
Experimental variables resources EFO; EFO_0001133
Gene expression databases ArrayExpress; E-GEUV-1
ArrayExpress; E-GEUV-2
ArrayExpress; E-GEUV-3
ArrayExpress; E-MTAB-5835
GEO; GSM25542
GEO; GSM25543
GEO; GSM30040
GEO; GSM112527
GEO; GSM112832
GEO; GSM188806
GEO; GSM273315
GEO; GSM273316
GEO; GSM291642
GEO; GSM314904
GEO; GSM314905
GEO; GSM420752
GEO; GSM420753
GEO; GSM424344
GEO; GSM486789
GEO; GSM486790
GEO; GSM648941
GEO; GSM957380
GEO; GSM1719778
Entry history
Entry creation06-Jun-2012
Last entry update10-Apr-2025
Version number27