ID   GM01024
AC   CVCL_V792
SY   GM-1024; GM 1024; GM1024
DR   CLO; CLO_0029489
DR   BioSample; SAMN00803571
DR   Coriell; GM01024
DR   Wikidata; Q54836609
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=2803224;
RX   PubMed=3265056;
RX   PubMed=8399358;
CC   Sequence variation: Mutation; HGNC; 4006; FUCA1; Simple; p.Gln82Ter (c.244C>T) (Q77*); ClinVar=VCV000000685; Zygosity=Heterozygous (PubMed=8399358).
CC   Sequence variation: Mutation; HGNC; 4006; FUCA1; Simple; p.Gln286Arg (c.857A>G) (Q281R); ClinVar=VCV000000691; Zygosity=Heterozygous (PubMed=8399358).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C61274; Fucosidosis
DI   ORDO; Orphanet_349; Fucosidosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_V763 ! GM00291
SX   Male
AG   9Y
CA   Transformed cell line
DT   Created: 16-04-14; Last updated: 29-06-23; Version: 15
//
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   DOI=10.5962/bhl.title.4090;
RA   Coriell L.L., Greene A.E.;
RT   "The human genetic mutant cell repository: list of genetic variants,
RT   chromosomal aberrations and normal cell cultures submitted to the
RT   repository. 4th edition. October 1977.";
RL   (In) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977).
//
RX   PubMed=2803224; DOI=10.1007/BF00554163;
RA   DiCioccio R.A., Darby J.K., Willems P.J.;
RT   "Abnormal expression of alpha-L-fucosidase in lymphoid cell lines of
RT   fucosidosis patients.";
RL   Biochem. Genet. 27:279-290(1989).
//
RX   PubMed=3265056; DOI=10.1007/BF02401794;
RA   DiCioccio R.A., Brown K.S.;
RT   "Biosynthesis, processing, and extracellular release of
RT   alpha-L-fucosidase in lymphoid cell lines of different genetic
RT   origins.";
RL   Biochem. Genet. 26:401-420(1988).
//
RX   PubMed=8399358; DOI=10.1016/0925-4439(93)90065-9;
RA   Yang M.-H., Allen H., DiCioccio R.A.;
RT   "Pedigree analysis of alpha-L-fucosidase gene mutations in a
RT   fucosidosis family.";
RL   Biochim. Biophys. Acta 1182:245-249(1993).
//