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 Jakub Tolar, In-Hyun Park, Lily Xia, Chris J. Lees, Brandon Peacock, Beau R. Webber, Ronald T. McElmurry, Cindy R. Eide, Paul J. Orchard, Michael Kyba, Mark J. Osborn ...Show all 15 authors... , Troy C. Lund, John E. Wagner, George Quentin Daley, Bruce R. Blazar; Show fewer authors 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