ID   GM00643
AC   CVCL_0L93
SY   GM-643
DR   CLO; CLO_0028882
DR   Coriell; GM00643
DR   Wikidata; Q54836369
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:10818; SGSH; Simple; p.Val361Serfs*52 (c.1080delC) (1091delC); ClinVar=VCV000518268; Zygosity=Heterozygous (Coriell=GM00643).
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: 10-04-15; Last updated: 19-12-24; Version: 15
//
RX   CelloPub=CLPUB00447;
RA   Mulivor, Richard A.
RA   Suchy, Sharon 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, Lewis Lemon
RA   Greene, Arthur 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).
//