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Cellosaurus MPS-KC-iPS 1 (CVCL_C929)

[Text version]
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; 5391; IDUA; Simple; p.Tyr167Ter (c.501C>G); ClinVar=VCV000092644; Zygosity=Heterozygous (PubMed=21037085).
  • Mutation; 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
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)

Cross-references
Cell line databases/resources ISCR; 1828
Encyclopedic resources Wikidata; Q54906517
Entry history
Entry creation22-Oct-2012
Last entry update29-Jun-2023
Version number16