ID   FD-1-iPSC
AC   CVCL_C6TP
DR   Wikidata; Q117704331
RX   PubMed=31981984;
CC   From: Korea Advanced Institute of Science and Technology; Daejeon; South Korea.
CC   Sequence variation: Mutation; HGNC; HGNC:4296; GLA; Simple; p.Leu268fs*1 (c.803_806del); Zygosity=Hemizygous (PubMed=31981984).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84701; Fabry disease
DI   ORDO; Orphanet_324; Fabry disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   37Y
CA   Induced pluripotent stem cell
DT   Created: 21-03-23; Last updated: 19-12-24; Version: 3
//
RX   PubMed=31981984; DOI=10.1016/j.ebiom.2020.102633; PMCID=PMC6992938;
RA   Do H.-S., Park S.-W., Im I., Seo D., Yoo H.-W., Go H., Kim Y.H.,
RA   Koh G.Y., Lee B.-H., Han Y.-M.;
RT   "Enhanced thrombospondin-1 causes dysfunction of vascular endothelial
RT   cells derived from Fabry disease-induced pluripotent stem cells.";
RL   EBioMedicine 52:102633.1-102633.15(2020).
//