ID GM12872 AC CVCL_9626 DR CLO; CLO_0022836 DR EFO; EFO_0001159 DR ArrayExpress; E-GEUV-1 DR ArrayExpress; E-GEUV-2 DR ArrayExpress; E-GEUV-3 DR ArrayExpress; E-MTAB-5835 DR BioSample; SAMN00801876 DR Coriell; GM12872 DR ENCODE; ENCBS216AAA DR ENCODE; ENCBS265RII DR ENCODE; ENCBS477BBE DR ENCODE; ENCBS883JTO DR GEO; GSM25680 DR GEO; GSM25681 DR GEO; GSM112564 DR GEO; GSM112867 DR GEO; GSM188843 DR GEO; GSM273362 DR GEO; GSM273363 DR GEO; GSM291693 DR GEO; GSM315027 DR GEO; GSM315028 DR GEO; GSM421084 DR GEO; GSM421085 DR GEO; GSM424358 DR GEO; GSM486847 DR GEO; GSM486848 DR GEO; GSM648853 DR GEO; GSM659968 DR GEO; GSM660203 DR GEO; GSM660380 DR GEO; GSM749692 DR GEO; GSM749694 DR GEO; GSM749765 DR GEO; GSM905901 DR GEO; GSM905996 DR GEO; GSM906091 DR GEO; GSM957394 DR GEO; GSM1022633 DR GEO; GSM1719832 DR IGSR; NA12872 DR Wikidata; Q54846169 RX PubMed=17122850; RX PubMed=19043577; RX PubMed=19797678; RX PubMed=20398888; RX PubMed=20856902; RX PubMed=21397061; RX PubMed=24037378; RX PubMed=27617755; RX PubMed=29116076; WW Info; CEPH; -; https://www.cephb.fr/en/familles_CEPH.php WW Info; ENCODE; -; http://genome.ucsc.edu/ENCODE/protocols/cell/human/GM12872_Stam_protocol.pdf CC Part of: CEPH/Utah pedigree cell line collection. CC Part of: ENCODE project common cell types; tier 3. CC Part of: International Genome Sample Resource (1000 genomes project) cell lines. CC Registration: CEPH Families Reference Panel; 145909. CC Population: Caucasian; Utah residents with ancestry from Northern and Western Europe. CC Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV). CC Omics: Genomics; ChIP-seq; CTCF. CC Omics: Genomics; Whole genome sequencing. CC Omics: Transcriptomics; CAGE-seq. CC Omics: Transcriptomics; Microarray. CC Omics: Transcriptomics; RNAseq. CC Omics: Variations; CNV analysis. CC Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178. OX NCBI_TaxID=9606; ! Homo sapiens (Human) SX Male AG Age unspecified CA Transformed cell line DT Created: 06-06-12; Last updated: 10-04-25; Version: 25 // RX PubMed=21397061; DOI=10.1016/j.ajhg.2011.02.004; PMCID=PMC3059424; RA Campbell, Catarina D. RA Sampas, Nick RA Tsalenko, Anya RA Sudmant, Peter H. RA Kidd, Jeffrey M. RA Malig, Maika RA Vu, Tiffany H. RA Vives, Laura RA Tsang, Peter RA Bruhn, Laurakay RA Eichler, Evan E. RT "Population-genetic properties of differentiated human copy-number RT polymorphisms."; RL Am. J. Hum. Genet. 88:317-332(2011). // RX PubMed=17122850; DOI=10.1038/nature05329; PMCID=PMC2669898; RA Redon, Richard RA Ishikawa, Shumpei RA Fitch, Karen R. RA Feuk, Lars RA Perry, George H. RA Andrews, T. Daniel RA Fiegler, Heike RA Shapero, Michael H. RA Carson, Andrew R. RA Chen, Wen-Wei RA Cho, Eun Kyung RA Dallaire, Stephanie RA Freeman, Jennifer L. RA Gonzalez, Juan R. RA Gratacos, Monica RA Huang, Jing RA Kalaitzopoulos, Dimitrios RA Komura, Daisuke RA MacDonald, Jeffrey R. RA Marshall, Christian R. RA Mei, Rui RA Montgomery, Lyndal RA Nishimura, Kunihiro RA Okamura, Kohji RA Shen, Fan RA Somerville, Martin John RA Tchinda, Joelle RA Valsesia, Armand RA Woodwark, Cara RA Yang, Feng-Tang RA Zhang, Jun-Jun RA Zerjal, Tatiana RA Zhang, Jane RA Armengol, Lluis RA Conrad, Donald F. RA Estivill, Xavier RA Tyler-Smith, Chris RA Carter, Nigel P. RA Aburatani, Hiroyuki RA Lee, Charles RA Jones, Keith W. RA Scherer, Stephen Wayne RA Hurles, Matthew Edward RT "Global variation in copy number in the human genome."; RL Nature 444:444-454(2006). // RX PubMed=27617755; DOI=10.1038/srep32406; PMCID=PMC5019111; RA Ferreira, Pedro G. RA Oti, Martin RA Barann, Matthias RA Wieland, Thomas RA Ezquina, Suzana RA Friedlander, Marc R. RA Rivas, Manuel A. RA Esteve-Codina, Anna RA Rosenstiel, Philip RA Strom, Tim-Matthias RA Lappalainen, Tuuli RA Guigo, Roderic RA Sammeth, Michael RG Geuvadis Consortium; RT "Sequence variation between 462 human individuals fine-tunes RT functional sites of RNA processing."; RL Sci. Rep. 6:32406.1-32406.13(2016). // RX PubMed=20856902; DOI=10.1371/journal.pbio.1000480; PMCID=PMC2939022; RA Cheung, Vivian G. RA Nayak, Renuka R. RA Wang, Isabel Xiao-Rong RA Elwyn, Susannah RA Cousins, Sarah M. RA Morley, Michael RA Spielman, Richard Saul RT "Polymorphic cis- and trans-regulation of human gene expression."; RL PLoS Biol. 8:e1000480.1-e1000480.14(2010). // RX PubMed=20398888; DOI=10.1016/j.ajhg.2010.03.017; PMCID=PMC2869002; RA Dombroski, Beth A. RA Nayak, Renuka R. RA Ewens, Kathryn G. RA Ankener, Wendy RA Cheung, Vivian G. RA Spielman, Richard Saul RT "Gene expression and genetic variation in response to endoplasmic RT reticulum stress in human cells."; RL Am. J. Hum. Genet. 86:719-729(2010). // RX PubMed=19797678; DOI=10.1101/gr.097600.109; PMCID=PMC2775589; RA Nayak, Renuka R. RA Kearns, Michael Justin RA Spielman, Richard Saul RA Cheung, Vivian G. RT "Coexpression network based on natural variation in human gene RT expression reveals gene interactions and functions."; RL Genome Res. 19:1953-1962(2009). // RX PubMed=24037378; DOI=10.1038/nature12531; PMCID=PMC3918453; RA Lappalainen, Tuuli RA Sammeth, Michael RA Friedlander, Marc R. RA 't Hoen, Peter A.C. RA Monlong, Jean RA Rivas, Manuel A. RA Gonzalez-Porta, Mar RA Kurbatova, Natalja RA Griebel, Thasso RA Ferreira, Pedro G. RA Barann, Matthias RA Wieland, Thomas RA Greger, Liliana RA van Iterson, Maarten RA Almlof, Jonas Carlsson RA Ribeca, Paolo RA Pulyakhina, Irina RA Esser, Daniela RA Giger, Thomas RA Tikhonov, Andrew RA Sultan, Marc RA Bertier, Gabrielle RA MacArthur, Daniel Geoffrey RA Lek, Monkol RA Lizano, Esther RA Buermans, Henk P.J. RA Padioleau, Ismael RA Schwarzmayr, Thomas RA Karlberg, Olof RA Ongen, Halit RA Kilpinen, Helena RA Beltran, Sergi RA Gut, Marta RA Kahlem, Katja RA Amstislavskiy, Vyacheslav RA Stegle, Oliver RA Pirinen, Matti RA Montgomery, Stephen B. RA Donnelly, Peter RA McCarthy, Mark Ian RA Flicek, Paul RA Strom, Tim-Matthias RA Lehrach, Hans RA Schreiber, Stefan RA Sudbrak, Ralf RA Carracedo, Angel RA Antonarakis, Stylianos E. RA Hasler, Robert RA Syvanen, Ann-Christine RA van Ommen, Gert-Jan B. RA Brazma, Alvis RA Meitinger, Thomas RA Rosenstiel, Philip RA Guigo, Roderic RA Gut, Ivo G. RA Estivill, Xavier RA Dermitzakis, Emmanouil Theophilos RG Geuvadis Consortium; RT "Transcriptome and genome sequencing uncovers functional variation in RT humans."; RL Nature 501:506-511(2013). // RX PubMed=29116076; DOI=10.1038/s41467-017-01467-7; PMCID=PMC5677018; RA Garieri, Marco RA Delaneau, Olivier RA Santoni, Federico Andrea RA Fish, Richard J. RA Mull, David RA Carninci, Piero RA Dermitzakis, Emmanouil Theophilos RA Antonarakis, Stylianos E. RA Fort, Alexandre RT "The effect of genetic variation on promoter usage and enhancer RT activity."; RL Nat. Commun. 8:1358.1-1358.9(2017). // RX PubMed=19043577; DOI=10.1371/journal.pgen.1000287; PMCID=PMC2583954; RA Choy, Edwin RA Yelensky, Roman RA Bonakdar, Sasha RA Plenge, Robert M. RA Saxena, Richa RA De Jager, Philip Lawrence RA Shaw, Stanley Y. RA Wolfish, Cara Susan RA Slavik, Jacqueline M. RA Cotsapas, Chris RA Rivas, Manuel A. RA Dermitzakis, Emmanouil Theophilos RA Cahir-McFarland, Ellen RA Kieff, Elliott Dan RA Hafler, David A. RA Daly, Mark Joseph RA Altshuler, David Matthew RT "Genetic analysis of human traits in vitro: drug response and gene RT expression in lymphoblastoid cell lines."; RL PLoS Genet. 4:e1000287.1-e1000287.16(2008). //