Cellosaurus cell line MPS-KC-iPS 1 (CVCL

Cross-references
Cell line name	MPS-KC-iPS 1
Synonyms	MPS-KC-derived iPS 1
Accession	CVCL_C929
Resource Identification Initiative	To cite this cell line use: MPS-KC-iPS 1 (RRID:CVCL_C929)
Comments	From: University of Minnesota; Twin Cities; USA. Derived from site: In situ; Skin, epidermis; UBERON=UBERON_0001003. Cell type: Keratinocyte; CL=CL_0000312.
Sequence variations	Mutation; HGNC; HGNC:5391; IDUA; Simple; p.Tyr167Ter (c.501C>G); ClinVar=VCV000092644; Zygosity=Heterozygous (PubMed=21037085). Mutation; HGNC; HGNC:5391; IDUA; Simple; p.Trp402Ter (c.1205G>A); ClinVar=VCV000011908; Zygosity=Heterozygous (PubMed=21037085).
Disease	Hurler syndrome (NCIt: C61261) Hurler syndrome (ORDO: Orphanet_93473)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	1Y3M
Category	Induced pluripotent stem cell
Publications	PubMed=21037085; DOI=10.1182/blood-2010-05-287607; PMCID=PMC3035077 Tolar J., Park I.-H., Xia L., Lees C.J., Peacock B., Webber B.R., McElmurry R.T., Eide C.R., Orchard P.J., Kyba M., Osborn M.J., Lund T.C., Wagner J.E., Daley G.Q., Blazar B.R. Hematopoietic differentiation of induced pluripotent stem cells from patients with mucopolysaccharidosis type I (Hurler syndrome). Blood 117:839-847(2011)
Encyclopedic resources	Wikidata; Q54906517
Entry history
Entry creation	22-Oct-2012
Last entry update	19-Dec-2024
Version number	18