Cellosaurus cell line GM13423 (CVCL

Cross-references
Cell line name	GM13423
Accession	CVCL_0N24
Resource Identification Initiative	To cite this cell line use: GM13423 (RRID:CVCL_0N24)
Comments	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.Gly85Glu (c.254G>A); ClinVar=VCV000007143; Zygosity=Heterozygous (PubMed=19359498). Mutation; HGNC; HGNC:1884; CFTR; Simple; p.Asp1152His (c.3454G>C); ClinVar=VCV000035867; 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	Female
Age at sampling	22Y
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; GM13423
Cell line databases/resources	CLO; CLO_0012643
Biological sample resources	BioSample; SAMN00802358
Encyclopedic resources	Wikidata; Q54846516
Entry history
Entry creation	10-Apr-2015
Last entry update	19-Dec-2024
Version number	17