ID   MPS-KC-iPS 1
AC   CVCL_C929
SY   MPS-KC-derived iPS 1
DR   ISCR; 1828
DR   Wikidata; Q54906517
RX   PubMed=21037085;
CC   From: University of Minnesota; Twin Cities; USA.
CC   Sequence variation: Mutation; HGNC; 5391; IDUA; Simple; p.Tyr167Ter (c.501C>G); ClinVar=VCV000092644; Zygosity=Heterozygous (PubMed=21037085).
CC   Sequence variation: Mutation; HGNC; 5391; IDUA; Simple; p.Trp402Ter (c.1205G>A); ClinVar=VCV000011908; Zygosity=Heterozygous (PubMed=21037085).
CC   Derived from site: In situ; Skin, epidermis; UBERON=UBERON_0001003.
CC   Cell type: Keratinocyte; CL=CL_0000312.
DI   NCIt; C61261; Hurler syndrome
DI   ORDO; Orphanet_93473; Hurler syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   1Y3M
CA   Induced pluripotent stem cell
DT   Created: 22-10-12; Last updated: 29-06-23; Version: 16
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RX   PubMed=21037085; DOI=10.1182/blood-2010-05-287607;
RA   Tolar J., Park I.-H., Xia L., Lees C.J., Peacock B., Webber B.R.,
RA   McElmurry R.T., Eide C.R., Orchard P.J., Kyba M., Osborn M.J.,
RA   Lund T.C., Wagner J.E., Daley G.Q., Blazar B.R.;
RT   "Hematopoietic differentiation of induced pluripotent stem cells from
RT   patients with mucopolysaccharidosis type I (Hurler syndrome).";
RL   Blood 117:839-847(2011).
//