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Cellosaurus GM03578 (CVCL_EF93)

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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; 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
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=19767587; DOI=10.2353/jmoldx.2009.090078; PMCID=PMC2765754
Shannon D. Barker, Sherri Bale, Jessica Booker, Arlene M. Buller-Burckle, Soma Das, Kenneth Friedman, Andrew Kent Godwin, Wayne W. Grody, William Edward Highsmith Jr., Jeffery A. Kant, Elaine Lyon ...Show all 23 authors... , Rong Mao, Kristin G. Monaghan, Deborah A. Payne, Victoria M. Pratt, Iris Schrijver, Antony E. Shrimpton, Elaine B. Spector, Milhan Telatar, Lorraine H. Toji, Karen E. Weck, Barbara A. Zehnbauer, Lisa V. Kalman; Show fewer authors
Development and characterization of reference materials for MTHFR, SERPINA1, RET, BRCA1, and BRCA2 genetic testing.
J. Mol. Diagn. 11:553-561(2009)

Cross-references
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 creation13-Jul-2016
Last entry update19-Dec-2024
Version number15