ID   GM01256
AC   CVCL_1V17
SY   GM-1256
DR   CLO; CLO_0030933
DR   BioSample; SAMN00803770
DR   Coriell; GM01256
DR   Wikidata; Q54836742
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=30052969;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 5391; IDUA; Simple; c.590-7G>A (IVS5AS-7G>A); ClinVar=VCV000222996; Zygosity=Heterozygous (Coriell=GM01256).
CC   Sequence variation: Mutation; HGNC; 5391; IDUA; Simple; p.Trp402Ter (c.1205G>A); ClinVar=VCV000011908; Zygosity=Heterozygous (Coriell=GM01256).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C61265; Scheie syndrome
DI   ORDO; Orphanet_93474; Scheie syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   12Y
CA   Finite cell line
DT   Created: 22-09-15; 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).
//
RX   PubMed=30052969; DOI=10.1093/hmg/ddy259;
RA   Swaroop M., Brooks M.J., Gieser L., Swaroop A., Zheng W.;
RT   "Patient iPSC-derived neural stem cells exhibit phenotypes in
RT   concordance with the clinical severity of mucopolysaccharidosis I.";
RL   Hum. Mol. Genet. 27:3612-3626(2018).
//