Cellosaurus logo
expasy logo

Cellosaurus GM07441 (CVCL_7466)

[Text version]
Cell line name GM07441
Synonyms GM 07441
Accession CVCL_7466
Resource Identification Initiative To cite this cell line use: GM07441 (RRID:CVCL_7466)
Comments Population: African American.
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; c.489+1G>T (621+1G>T); ClinVar=VCV000038799; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM07441).
  • Mutation; HGNC; HGNC:1884; CFTR; Simple; c.2988+1G>A (3120+1G>A); ClinVar=VCV000007224; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM07441).
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 20Y
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=14709668; DOI=10.1373/clinchem.2003.028068
Siby Sebastian, Silvia G. Spitzer, Leonard E. Grosso, Jean Amos Wilson, Frederick V. Schaefer, Elaine Lyon, Daynna J. Wolff, Atieh Hajianpour, Annette K. Taylor, Alison Millson, Timothy T. Stenzel;
Multicenter characterization and validation of the intron-8 poly(T) tract (IVS8-T) status in 25 Coriell cell repository cystic fibrosis reference cell lines for cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation assays.
Clin. Chem. 50:251-254(2004)

PubMed=16244288; DOI=10.1373/clinchem.2005.048686
Susan H. Bernacki, Jeanne C. Beck, Kasinathan Muralidharan, Frederick V. Schaefer, Antony E. Shrimpton, Kristy L. Richie, Barbara C. Levin, Genevieve Pont-Kingdon, Timothy T. Stenzel;
Characterization of publicly available lymphoblastoid cell lines for disease-associated mutations in 11 genes.
Clin. Chem. 51:2156-2159(2005)

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)

Cross-references
Cell line collections (Providers) Coriell; GM07441
Cell line databases/resources CLO; CLO_0016859
Encyclopedic resources Wikidata; Q54842760
Gene expression databases GEO; GSM617122
Entry history
Entry creation04-Apr-2012
Last entry update19-Dec-2024
Version number24