ID   GM11604
AC   CVCL_9R94
DR   CLO; CLO_0021185
DR   Coriell; GM11604
DR   Wikidata; Q54845186
RX   CelloPub=CLPUB00447;
RX   PubMed=9054950;
CC   Sequence variation: Mutation; HGNC; 7758; NEU1; Simple; p.Gly3Thrfs*24 (c.4_7dupACTG); Zygosity=Homozygous (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_812; Sialidosis type 1
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   5M
CA   Finite cell line
DT   Created: 23-02-16; Last updated: 29-06-23; Version: 9
//
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=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).
//