ID   GM00415
AC   CVCL_V529
SY   GM-415; GM 00415
DR   CLO; CLO_0026126
DR   Coriell; GM00415
DR   Wikidata; Q54836208
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=8328452;
RX   PubMed=30052969;
CC   Population: Caucasian.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C61261; Hurler syndrome
DI   ORDO; Orphanet_93473; Hurler syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   4Y
CA   Finite cell line
DT   Created: 16-04-14; Last updated: 29-06-23; Version: 11
//
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=8328452;
RA   Bach G., Moskowitz S.M., Tieu P.T., Matynia A., Neufeld E.F.;
RT   "Molecular analysis of Hurler syndrome in Druze and Muslim Arab
RT   patients in Israel: multiple allelic mutations of the IDUA gene in a
RT   small geographic area.";
RL   Am. J. Hum. Genet. 53:330-338(1993).
//
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).
//