ID   GM00121
AC   CVCL_V751
SY   GM-121; GM00121A
DR   CLO; CLO_0025829
DR   Coriell; GM00121
DR   Wikidata; Q54836051
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=817873;
CC   Population: African American.
CC   Sequence variation: Mutation; HGNC; HGNC:4696; GUSB; Simple; p.Arg357Ter (c.1069C>T); ClinVar=VCV000000908; Zygosity=Heterozygous (Coriell=GM00121).
CC   Sequence variation: Mutation; HGNC; HGNC:4696; GUSB; Simple; p.Trp627Cys (c.1881G>T); ClinVar=VCV000000907; Zygosity=Heterozygous (Coriell=GM00121).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C84903; Sly syndrome
DI   ORDO; Orphanet_584; Mucopolysaccharidosis type 7
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   3Y
CA   Finite cell line
DT   Created: 16-04-14; Last updated: 19-12-24; 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 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=817873; DOI=10.1159/000130544;
RA   Sly W.S., Greene A.E., Coriell L.L.;
RT   "Beta-glucuronidase deficiency mucopolysaccharidosis. Repository
RT   identification No. GM-121.";
RL   Cytogenet. Cell Genet. 15:410-412(1975).
//