Cellosaurus cell line GM03578 (CVCL

Cellosaurus GM03578 (CVCL_EF93)

Cross-references
Cell line name	GM03578
Accession	CVCL_EF93
Resource Identification Initiative	To cite this cell line use: GM03578 (RRID:CVCL_EF93)
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; 8941; SERPINA1; Simple; p.Glu366Lys (c.1096G>A); ClinVar=VCV000017967; Zygosity=Homozygous; Note=Z allele (PubMed=19767587).
Disease	Alpha-1 antitrypsin deficiency (NCIt: C84397) Alpha-1 antitrypsin deficiency (ORDO: Orphanet_60)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	3Y
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=19767587; DOI=10.2353/jmoldx.2009.090078; PMCID=PMC2765754 Barker S.D., Bale S., Booker J., Buller-Burckle A.M., Das S., Friedman K., Godwin A.K., Grody W.W., Highsmith W.E. Jr., Kant J.A., Lyon E., Mao R., Monaghan K.G., Payne D.A., Pratt V.M., Schrijver I., Shrimpton A.E., Spector E.B., Telatar M., Toji L.H., Weck K.E., Zehnbauer B.A., Kalman L.V. Development and characterization of reference materials for MTHFR, SERPINA1, RET, BRCA1, and BRCA2 genetic testing. J. Mol. Diagn. 11:553-561(2009)
Cell line collections (Providers)	Coriell; GM03578
Cell line databases/resources	CLO; CLO_0017250
Biological sample resources	BioSample; SAMN00808458
Encyclopedic resources	Wikidata; Q54838140
Entry history
Entry creation	13-Jul-2016
Last entry update	29-Jun-2023
Version number	14