ID   GM01323
AC   CVCL_1V18
SY   GM-1323
DR   CLO; CLO_0030899
DR   BioSample; SAMN00803802
DR   Coriell; GM01323
DR   Wikidata; Q54836766
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:5391; IDUA; Simple; c.590-7G>A (IVS5AS-7G>A); ClinVar=VCV000222996; Zygosity=Heterozygous (Coriell=GM01323).
CC   Sequence variation: Mutation; HGNC; HGNC:5391; IDUA; Simple; p.Trp402Ter (c.1205G>A); ClinVar=VCV000011908; Zygosity=Heterozygous (Coriell=GM01323).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C61265; Scheie syndrome
DI   ORDO; Orphanet_93474; Scheie syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   58Y
CA   Finite cell line
DT   Created: 22-09-15; Last updated: 19-12-24; Version: 16
//
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).
//