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Cellosaurus GM06989 (CVCL_R579)

[Text version]
Cell line name GM06989
Accession CVCL_R579
Resource Identification Initiative To cite this cell line use: GM06989 (RRID:CVCL_R579)
Comments Part of: International Genome Sample Resource (1000 genomes project) cell lines.
Part of: CEPH/Utah pedigree cell line collection.
Registration: CEPH Families Reference Panel; 132802/1328109/1329313.
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: Genome sequenced.
Omics: Transcriptome analysis by RNAseq.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_5F48 ! GM13043
CVCL_5F49 ! GM13044
Sex of cell Female
Age at sampling 62Y
Category Transformed cell line
Web pages https://www.cephb.fr/en/familles_CEPH.php
Publications

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

PubMed=21397061; DOI=10.1016/j.ajhg.2011.02.004
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=24037378; DOI=10.1038/nature12531
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.
Transcriptome and genome sequencing uncovers functional variation in humans.
Nature 501:506-511(2013)

PubMed=27617755; DOI=10.1038/srep32406
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.
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
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)

PubMed=31401124; DOI=10.1016/j.jmoldx.2019.06.007
Gaedigk A., Turner A., Everts R.E., Scott S.A., Aggarwal P., Broeckel U., McMillin G.A., Melis R., Boone E.C., Pratt V.M., Kalman L.V.
Characterization of reference materials for genetic testing of CYP2D6 alleles: a GeT-RM collaborative project.
J. Mol. Diagn. 21:1034-1052(2019)

Cross-references
Cell line collections (Providers) Coriell; GM06989
Cell line databases/resources CLO; CLO_0036430
Biological sample resources IGSR; NA06989
Encyclopedic resources Wikidata; Q54842430
Gene expression databases ArrayExpress; E-GEUV-1
ArrayExpress; E-GEUV-3
ArrayExpress; E-MTAB-5835
GEO; GSM648884
GEO; GSM1719742
Entry history
Entry creation05-Nov-2013
Last entry update29-Jun-2023
Version number21