ID   HT142C
AC   CVCL_B5TJ
SY   HT142 (C); GM28383; GM28383*B
DR   Coriell; GM28383
DR   Wikidata; Q111733451
RX   PubMed=30052969;
CC   From: NIH-NCATS-TRND Branch; Rockville; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:5391; IDUA; Simple; c.590-7G>A (IVS5AS-7G>A); ClinVar=VCV000222996; Zygosity=Heterozygous (Coriell=GM28383).
CC   Sequence variation: Mutation; HGNC; HGNC:5391; IDUA; Simple; p.Trp402Ter (c.1205G>A); ClinVar=VCV000011908; Zygosity=Heterozygous (Coriell=GM28383).
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)
HI   CVCL_1V17 ! GM01256
SX   Male
AG   12Y
CA   Induced pluripotent stem cell
DT   Created: 17-03-22; Last updated: 19-12-24; Version: 6
//
RX   PubMed=30052969; DOI=10.1093/hmg/ddy259; PMCID=PMC6454448;
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).
//