ID   GM03578
AC   CVCL_EF93
DR   CLO; CLO_0017250
DR   BioSample; SAMN00808458
DR   Coriell; GM03578
DR   Wikidata; Q54838140
RX   CelloPub=CLPUB00447;
RX   PubMed=19767587;
CC   Part of: Genetic Testing Reference Material (GeT-RM) samples.
CC   Sequence variation: Mutation; HGNC; 8941; SERPINA1; Simple; p.Glu366Lys (c.1096G>A); ClinVar=VCV000017967; Zygosity=Homozygous; Note=Z allele (PubMed=19767587).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84397; Alpha-1 antitrypsin deficiency
DI   ORDO; Orphanet_60; Alpha-1 antitrypsin deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   3Y
CA   Transformed cell line
DT   Created: 13-07-16; Last updated: 29-06-23; Version: 14
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RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//
RX   PubMed=19767587; DOI=10.2353/jmoldx.2009.090078;
RA   Barker S.D., Bale S., Booker J., Buller-Burckle A.M., Das S.,
RA   Friedman K., Godwin A.K., Grody W.W., Highsmith W.E. Jr., Kant J.A.,
RA   Lyon E., Mao R., Monaghan K.G., Payne D.A., Pratt V.M., Schrijver I.,
RA   Shrimpton A.E., Spector E.B., Telatar M., Toji L.H., Weck K.E.,
RA   Zehnbauer B.A., Kalman L.V.;
RT   "Development and characterization of reference materials for MTHFR,
RT   SERPINA1, RET, BRCA1, and BRCA2 genetic testing.";
RL   J. Mol. Diagn. 11:553-561(2009).
//