ID   GM00291
AC   CVCL_V763
SY   GM-291
DR   CLO; CLO_0025509
DR   BioSample; SAMN00794934
DR   Coriell; GM00291
DR   Wikidata; Q54836139
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=1192845;
CC   Sequence variation: Mutation; HGNC; HGNC:4006; FUCA1; Simple; p.Gln82Ter (c.244C>T) (Q77*); ClinVar=VCV000000685; Zygosity=Heterozygous (from autologous cell line GM01024).
CC   Sequence variation: Mutation; HGNC; HGNC:4006; FUCA1; Simple; p.Gln286Arg (c.857A>G) (Q281R); ClinVar=VCV000000691; Zygosity=Heterozygous (from autologous cell line GM01024).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C61274; Fucosidosis
DI   ORDO; Orphanet_349; Fucosidosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_V792 ! GM01024
SX   Male
AG   9Y
CA   Finite cell line
DT   Created: 16-04-14; Last updated: 19-12-24; Version: 16
//
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 misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (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 misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977).
//
RX   PubMed=1192845; DOI=10.1159/000130518;
RA   Beratis N.G., Kousseff B.G., Hirschhorn K., Greene A.E., Coriell L.L.;
RT   "Fucosidosis type 2. Repository identification Nos. GM-289 to GM-292.";
RL   Cytogenet. Cell Genet. 15:195-197(1975).
//