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Cellosaurus UNIGEi001-A (CVCL_YC62)

[Text version]
Cell line name UNIGEi001-A
Synonyms MPS1-H.2y.S4; MPS1.2y.S4
Accession CVCL_YC62
Resource Identification Initiative To cite this cell line use: UNIGEi001-A (RRID:CVCL_YC62)
Comments From: University of Geneva; Geneva; Switzerland.
Population: Caucasian.
Omics: Array-based CGH.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 5391; IDUA; Simple; p.His358_Thr364del (c.1073_1093del); ClinVar=VCV000557260; Zygosity=Heterozygous (PubMed=31678774).
  • Mutation; HGNC; 5391; IDUA; Simple; p.Trp402Ter (c.1205G>A); ClinVar=VCV000011908; Zygosity=Heterozygous (PubMed=31678774).
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 2Y
Category Induced pluripotent stem cell
Publications

PubMed=31678774; DOI=10.1016/j.scr.2019.101604
Lito S., Burda P., Baumgartner M.R., Sloan-Bena F., Tancos Z., Kobolak J., Dinnyes A., Krause K.-H., Marteyn A.
Generation of human induced pluripotent stem cell line UNIGEi001-A from a 2-years old patient with mucopolysaccharidosis type IH disease.
Stem Cell Res. 41:101604-101604(2019)

PubMed=33287330; DOI=10.3390/cells9122593; PMCID=PMC7761689
Lito S., Sidibe A., Ilmjarv S., Burda P., Baumgartner M.R., Wehrle-Haller B., Krause K.-H., Marteyn A.
Induced pluripotent stem cells to understand mucopolysaccharidosis I: Demonstration of a migration defect in neural precursors.
Cells 9:2593.1-2593.1(2020)

Cross-references
Cell line databases/resources hPSCreg; UNIGEi001-A
Encyclopedic resources Wikidata; Q98134309
Entry history
Entry creation19-Dec-2019
Last entry update29-Jun-2023
Version number9