ID   GM01718
AC   CVCL_9R63
SY   GM-1718; GM01718A; GM1718A
DR   CLO; CLO_0030984
DR   BioSample; SAMN00807105
DR   Coriell; GM01718
DR   Wikidata; Q54837032
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=9054950;
CC   Sequence variation: Mutation; HGNC; 7758; NEU1; Simple; p.Phe260Tyr (c.779T>A); ClinVar=VCV000002446; Zygosity=Heterozygous (PubMed=9054950).
CC   Sequence variation: Mutation; HGNC; 7758; NEU1; Simple; p.Leu363Pro (c.1088T>C); ClinVar=VCV000002447; Zygosity=Heterozygous (PubMed=9054950).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C125596; Neuraminidase deficiency
DI   ORDO; Orphanet_87876; Sialidosis type 2
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   2M
CA   Finite cell line
DT   Created: 23-02-16; Last updated: 29-06-23; Version: 12
//
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=9054950; DOI=10.1038/ng0397-316;
RA   Pshezhetsky A.V., Richard C., Michaud L., Igdoura S., Wang S.-P.,
RA   Elsliger M.-A., Qu J.-Y., Leclerc D., Gravel R.A., Dallaire L.,
RA   Potier M.;
RT   "Cloning, expression and chromosomal mapping of human lysosomal
RT   sialidase and characterization of mutations in sialidosis.";
RL   Nat. Genet. 15:316-320(1997).
//