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 Richard A. Mulivor, Sharon F. Suchy; 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 Victoria M. Pratt, Michele Caggana, Christina Bridges, Arlene M. Buller-Burckle, Lisa DiAntonio, William Edward Highsmith Jr., Leonard M. Holtegaard, Kasinathan Muralidharan, Elizabeth M. Rohlfs, Jack C. Tarleton, Lorraine H. Toji ...Show all 13 authors... , Shannon D. Barker, Lisa V. Kalman; Show fewer authors 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