ID   GM00737
AC   CVCL_0L94
SY   GM-737
DR   CLO; CLO_0028814
DR   Coriell; GM00737
DR   Wikidata; Q54836431
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 7632; NAGLU; Simple; p.Tyr140Cys (c.419A>G); ClinVar=VCV000371634; Zygosity=Heterozygous (Coriell=GM00737).
CC   Sequence variation: Mutation; HGNC; 7632; NAGLU; Simple; p.Leu682Arg (c.2045T>G); ClinVar=VCV001323323; Zygosity=Heterozygous (Coriell=GM00737).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C84898; Mucopolysaccharidosis type IIIB
DI   ORDO; Orphanet_79270; Sanfilippo syndrome type B
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   7Y
CA   Finite cell line
DT   Created: 10-04-15; Last updated: 30-01-24; Version: 15
//
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).
//