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Cellosaurus GM12749 (CVCL_R667)

[Text version]
Cell line name GM12749
Accession CVCL_R667
Resource Identification Initiative To cite this cell line use: GM12749 (RRID:CVCL_R667)
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; 144412.
Population: Caucasian; Utah residents with ancestry from Northern and Western Europe.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Omics: CAGE-seq analysis.
Omics: CNV analysis.
Omics: Deep proteome analysis.
Omics: Genome sequenced.
Omics: Transcriptome analysis by microarray.
Omics: Transcriptome analysis by RNAseq.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling Age unspecified
Category Transformed cell line
Web pages https://www.cephb.fr/en/familles_CEPH.php
Publications

PubMed=14583597; DOI=10.1152/physiolgenomics.00163.2003
Pastinen T., Sladek R., Gurd S., Sammak A., Ge B., Lepage P., Lavergne K., Villeneuve A., Gaudin T., Brandstrom H., Beck A., Verner A., Kingsley J., Harmsen E., Labuda D., Morgan K., Vohl M.-C., Naumova A.K., Sinnett D., Hudson T.J.
A survey of genetic and epigenetic variation affecting human gene expression.
Physiol. Genomics 16:184-193(2004)

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

PubMed=20856902; DOI=10.1371/journal.pbio.1000480; PMCID=PMC2939022
Cheung V.G., Nayak R.R., Wang I.X.-R., Elwyn S., Cousins S.M., Morley M., Spielman R.S.
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
Campbell C.D., Sampas N., Tsalenko A., Sudmant P.H., Kidd J.M., Malig M., Vu T.H., Vives L., Tsang P., Bruhn L., Eichler E.E.
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
Wu L.-F., Candille S.I., Choi Y., Xie D., Jiang L.-H., Li-Pook-Than J., Tang H., Snyder M.P.
Variation and genetic control of protein abundance in humans.
Nature 499:79-82(2013)

PubMed=24037378; DOI=10.1038/nature12531; PMCID=PMC3918453
Lappalainen T., Sammeth M., Friedlander M.R., 't Hoen P.A.C., Monlong J., Rivas M.A., Gonzalez-Porta M., Kurbatova N., Griebel T., Ferreira P.G., Barann M., Wieland T., Greger L., van Iterson M., Almlof J.C., Ribeca P., Pulyakhina I., Esser D., Giger T., Tikhonov A., Sultan M., Bertier G., MacArthur D.G., Lek M., Lizano E., Buermans H.P.J., Padioleau I., Schwarzmayr T., Karlberg O., Ongen H., Kilpinen H., Beltran S., Gut M., Kahlem K., Amstislavskiy V., Stegle O., Pirinen M., Montgomery S.B., Donnelly P., McCarthy M.I., Flicek P., Strom T.-M., Lehrach H., Schreiber S., Sudbrak R., Carracedo A., Antonarakis S.E., Hasler R., Syvanen A.-C., van Ommen G.-J.B., Brazma A., Meitinger T., Rosenstiel P., Guigo R., Gut I.G., Estivill X., Dermitzakis E.T.
Geuvadis Consortium
Transcriptome and genome sequencing uncovers functional variation in humans.
Nature 501:506-511(2013)

PubMed=27617755; DOI=10.1038/srep32406; PMCID=PMC5019111
Ferreira P.G., Oti M., Barann M., Wieland T., Ezquina S., Friedlander M.R., Rivas M.A., Esteve-Codina A., Rosenstiel P., Strom T.-M., Lappalainen T., Guigo R., Sammeth M.
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
Garieri M., Delaneau O., Santoni F.A., Fish R.J., Mull D., Carninci P., Dermitzakis E.T., Antonarakis S.E., Fort A.
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; GM12749
Cell line databases/resources CLO; CLO_0022580
Biological sample resources BioSample; SAMN00801680
IGSR; NA12749
Encyclopedic resources Wikidata; Q54846014
Gene expression databases ArrayExpress; E-GEUV-1
ArrayExpress; E-GEUV-2
ArrayExpress; E-GEUV-3
ArrayExpress; E-MTAB-5835
GEO; GSM25622
GEO; GSM25623
GEO; GSM207785
GEO; GSM314978
GEO; GSM314979
GEO; GSM420960
GEO; GSM420961
GEO; GSM648896
GEO; GSM906191
GEO; GSM906192
GEO; GSM1719811
Entry history
Entry creation05-Nov-2013
Last entry update29-Jun-2023
Version number19