Cellosaurus cell line GM11288 (CVCL

Cellosaurus GM11288 (CVCL_V232)

Cross-references
Cell line name	GM11288
Accession	CVCL_V232
Resource Identification Initiative	To cite this cell line use: GM11288 (RRID:CVCL_V232)
Comments	Part of: Genetic Testing Reference Material (GeT-RM) samples. Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV). Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:1884; CFTR; Simple; p.Gly178Arg (c.532G>A); ClinVar=VCV000048692; Zygosity=Heterozygous (PubMed=19359498). Mutation; HGNC; HGNC:1884; CFTR; Simple; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Heterozygous (PubMed=19359498).
Disease	Cystic fibrosis (NCIt: C2975) Cystic fibrosis (ORDO: Orphanet_586)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	Age unspecified
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=19359498; DOI=10.2353/jmoldx.2009.080149; PMCID=PMC2671335 Pratt V.M., Caggana M., Bridges C., Buller-Burckle A.M., DiAntonio L., Highsmith W.E. Jr., Holtegaard L.M., Muralidharan K., Rohlfs E.M., Tarleton J.C., Toji L.H., Barker S.D., Kalman L.V. Development of genomic reference materials for cystic fibrosis genetic testing. J. Mol. Diagn. 11:186-193(2009)
Cell line collections (Providers)	Coriell; GM11288
Cell line databases/resources	CLO; CLO_0026004
Encyclopedic resources	Wikidata; Q54844968
Entry history
Entry creation	16-Apr-2014
Last entry update	19-Dec-2024
Version number	19