Cellosaurus cell line GM21551 (CVCL

Cross-references
Cell line name	GM21551
Accession	CVCL_0N46
Resource Identification Initiative	To cite this cell line use: GM21551 (RRID:CVCL_0N46)
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.Ile507Val (c.1519A>G); ClinVar=VCV000188863; Zygosity=Heterozygous; Note=Benign (PubMed=19359498). Mutation; HGNC; HGNC:1884; CFTR; Simple; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Heterozygous (PubMed=19359498).
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	27Y
Category	Transformed cell line
Publications	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; GM21551
Cell line databases/resources	CLO; CLO_0014069
Encyclopedic resources	Wikidata; Q54851983
Entry history
Entry creation	10-Apr-2015
Last entry update	19-Dec-2024
Version number	17