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Cellosaurus GM06160 (CVCL_7453)

[Text version]
Cell line name GM06160
Synonyms GM17264
Accession CVCL_7453
Resource Identification Initiative To cite this cell line use: GM06160 (RRID:CVCL_7453)
Comments Part of: Genetic Testing Reference Material (GeT-RM) samples.
Part of: Human variation panel.
Population: Caucasian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Omics: DNA methylation analysis.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 4886; HFE; Simple; p.Cys282Tyr (c.845G>A); ClinVar=VCV000000009; Zygosity=Heterozygous (Coriell=GM06160).
  • Mutation; HGNC; 7436; MTHFR; Simple; p.Ala222Val (c.665C>T) (C677T); ClinVar=VCV000003520; Zygosity=Heterozygous (Coriell=GM06160).
HLA typing Source: PubMed=29959025
Class I
HLA-AA*01:01:01,24:02:01
HLA-BB*08:01:01,35:01:01
HLA-CC*04:01:01,07:01:01
Class II
HLA-DPDPA1*01:03:01,01:03:01
DPB1*04:01:01,06:01:01
HLA-DQDQA1*01:01:01,03:01:01
DQB1*03:02:01,05:01:01
HLA-DRDRB1*01:03:01,04:01:01
DRB4*01:03:01
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 25Y
Category Transformed cell line
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 misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

PubMed=16244288; DOI=10.1373/clinchem.2005.048686
Bernacki S.H., Beck J.C., Muralidharan K., Schaefer F.V., Shrimpton A.E., Richie K.L., Levin B.C., Pont-Kingdon G., Stenzel T.T.
Characterization of publicly available lymphoblastoid cell lines for disease-associated mutations in 11 genes.
Clin. Chem. 51:2156-2159(2005)

PubMed=20889555; DOI=10.2353/jmoldx.2010.100090; PMCID=PMC2962854
Pratt V.M., Zehnbauer B.A., Wilson J.A., Epstein-Baak R., Babic N., Bettinotti M.P., Buller-Burckle A.M., Butz K.G., Campbell M., Civalier C., El-Badry A., Farkas D.H., Lyon E., Mandal S., McKinney J., Muralidharan K., Noll L., Sander T., Shabbeer J., Smith C.-Y.H., Telatar M., Toji L.H., Vairavan A., Vance C., Weck K.E., Wu A.H.B., Yeo K.-T.J., Zeller M., Kalman L.V.
Characterization of 107 genomic DNA reference materials for CYP2D6, CYP2C19, CYP2C9, VKORC1, and UGT1A1: a GeT-RM and Association for Molecular Pathology collaborative project.
J. Mol. Diagn. 12:835-846(2010)

PubMed=29959025; DOI=10.1016/j.jmoldx.2018.05.009; PMCID=PMC6939753
Bettinotti M.P., Ferriola D., Duke J.L., Mosbruger T.L., Tairis N., Jennings L., Kalman L.V., Monos D.S.
Characterization of 108 genomic DNA reference materials for 11 human leukocyte antigen loci: a GeT-RM collaborative project.
J. Mol. Diagn. 20:703-715(2018)

Cross-references
Cell line collections (Providers) Coriell; GM06160
Coriell; GM17264
Cell line databases/resources CLO; CLO_0013168
CLO; CLO_0023572
Encyclopedic resources Wikidata; Q54842202
Gene expression databases GEO; GSM569722
GEO; GSM596328
GEO; GSM596750
GEO; GSM924866
Entry history
Entry creation04-Apr-2012
Last entry update30-Jan-2024
Version number21