ID   UNIGEi001-A
AC   CVCL_YC62
SY   MPS1-H.2y.S4; MPS1.2y.S4
DR   hPSCreg; UNIGEi001-A
DR   Wikidata; Q98134309
RX   PubMed=31678774;
RX   PubMed=33287330;
CC   From: University of Geneva; Geneva; Switzerland.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 5391; IDUA; Simple; p.His358_Thr364del (c.1073_1093del); ClinVar=VCV000557260; Zygosity=Heterozygous (PubMed=31678774).
CC   Sequence variation: Mutation; HGNC; 5391; IDUA; Simple; p.Trp402Ter (c.1205G>A); ClinVar=VCV000011908; Zygosity=Heterozygous (PubMed=31678774).
CC   Omics: Array-based CGH.
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C61261; Hurler syndrome
DI   ORDO; Orphanet_93473; Hurler syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   2Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 29-06-23; Version: 9
//
RX   PubMed=31678774; DOI=10.1016/j.scr.2019.101604;
RA   Lito S., Burda P., Baumgartner M.R., Sloan-Bena F., Tancos Z.,
RA   Kobolak J., Dinnyes A., Krause K.-H., Marteyn A.;
RT   "Generation of human induced pluripotent stem cell line UNIGEi001-A
RT   from a 2-years old patient with mucopolysaccharidosis type IH
RT   disease.";
RL   Stem Cell Res. 41:101604-101604(2019).
//
RX   PubMed=33287330; DOI=10.3390/cells9122593;
RA   Lito S., Sidibe A., Ilmjarv S., Burda P., Baumgartner M.R.,
RA   Wehrle-Haller B., Krause K.-H., Marteyn A.;
RT   "Induced pluripotent stem cells to understand mucopolysaccharidosis.
RT   I: Demonstration of a migration defect in neural precursors.";
RL   Cells 9:2593.1-2593.1(2020).
//