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Cellosaurus GM03469 (CVCL_7390)

[Text version]
Cell line name GM03469
Synonyms GM03469A; GM17066
Accession CVCL_7390
Resource Identification Initiative To cite this cell line use: GM03469 (RRID:CVCL_7390)
Comments Part of: Human variation panel.
Population: Mexican.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Omics: CNV analysis.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:1884; CFTR; Simple; p.Arg170His (c.509G>A); ClinVar=VCV000053983; Zygosity=Heterozygous (Coriell=GM03469).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 20Y
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=23665875; DOI=10.1534/g3.113.006577; PMCID=PMC3704242
Tang Z.-Y., Berlin D.S., Toji L.H., Toruner G.A., Beiswanger C.M., Kulkarni S., Martin C.L., Emanuel B.S., Christman M., Gerry N.P.
A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds.
G3 (Bethesda) 3:1143-1149(2013)

Cross-references
Cell line collections (Providers) Coriell; GM03469
Coriell; GM17066
Cell line databases/resources CLO; CLO_0014565
CLO; CLO_0017026
Biological sample resources BioSample; SAMN00808417
Encyclopedic resources Wikidata; Q54838084
Entry history
Entry creation04-Apr-2012
Last entry update19-Dec-2024
Version number23