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Cellosaurus GM07752 (CVCL_7474)

[Text version]
Cell line name GM07752
Synonyms GM17278
Accession CVCL_7474
Resource Identification Initiative To cite this cell line use: GM07752 (RRID:CVCL_7474)
Comments 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=GM07752).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_7475 ! GM07753
Sex of cell Male
Age at sampling 17Y
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)

Cross-references
Cell line collections (Providers) Coriell; GM07752
Coriell; GM17278
Cell line databases/resources CLO; CLO_0013204
CLO; CLO_0016350
Encyclopedic resources Wikidata; Q54842893
Gene expression databases GEO; GSM569733
GEO; GSM596342
GEO; GSM596763
GEO; GSM924880
Entry history
Entry creation04-Apr-2012
Last entry update30-Jan-2024
Version number20