Cellosaurus cell line GM07732 (CVCL

Cellosaurus GM07732 (CVCL_0M71)

Cross-references
Cell line name	GM07732
Synonyms	GM07732A
Accession	CVCL_0M71
Resource Identification Initiative	To cite this cell line use: GM07732 (RRID:CVCL_0M71)
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.Glu60Ter (c.178G>T); ClinVar=VCV000038730; 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	Female
Age at sampling	31Y
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; GM07732
Cell line databases/resources	CLO; CLO_0016398
Encyclopedic resources	Wikidata; Q54842878
Entry history
Entry creation	10-Apr-2015
Last entry update	19-Dec-2024
Version number	18