ID   GM01881
AC   CVCL_V812
SY   GM-1881; GM1881
DR   CLO; CLO_0032425
DR   BioSample; SAMN00807272
DR   Coriell; GM01881
DR   Wikidata; Q54837156
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=6777119;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 10818; SGSH; Simple; p.Ser66Trp (c.197C>G); ClinVar=VCV000005111; Zygosity=Heterozygous (Coriell=GM01881).
CC   Sequence variation: Mutation; HGNC; 10818; SGSH; Simple; p.Val131Met (c.391G>A); ClinVar=VCV001372507; Zygosity=Heterozygous (Coriell=GM01881).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C84897; Mucopolysaccharidosis type IIIA
DI   ORDO; Orphanet_79269; Sanfilippo syndrome type A
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   3Y
CA   Finite cell line
DT   Created: 16-04-14; Last updated: 30-01-24; Version: 17
//
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=6777119; DOI=10.1159/000131495;
RA   Rodewald A., Cleve H., Stengel-Rutkowski S., Wirtz A., Murken J.-D.,
RA   DiValerio M., Mulivor R.A., Greene A.E., Coriell L.L.;
RT   "A (1;21) balanced translocation in a male with mucopolysaccharidosis
RT   type IIIA. Repository identification No. GM1881.";
RL   Cytogenet. Cell Genet. 27:267-267(1980).
//