Cellosaurus cell line UNIGEi001-A (CVCL

Cellosaurus UNIGEi001-A (CVCL_YC62)

Cross-references
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; HGNC:5391; IDUA; Simple; p.His358_Thr364del (c.1073_1093del); ClinVar=VCV000557260; Zygosity=Heterozygous (PubMed=31678774). Mutation; HGNC; 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)
Cell line databases/resources	hPSCreg; UNIGEi001-A
Encyclopedic resources	Wikidata; Q98134309
Entry history
Entry creation	19-Dec-2019
Last entry update	19-Dec-2024
Version number	10