ID   FD-1-Cor
AC   CVCL_C6TR
SY   FD1(cor); DDLABi001-A
DR   hPSCreg; DDLABi001-A
DR   Wikidata; Q117704330
RX   PubMed=31981984;
RX   PubMed=36516658;
CC   From: Korea Advanced Institute of Science and Technology; Daejeon; South Korea.
CC   Sequence variation: Mutation; HGNC; 4296; GLA; Simple_corrected; p.Leu268fs*1 (c.803_806del); Zygosity=Hemizygous; Note=By CRISPR/Cas9 (PubMed=31981984; PubMed=36516658).
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)
HI   CVCL_C6TP ! FD-1-iPSC
SX   Male
AG   37Y
CA   Induced pluripotent stem cell
DT   Created: 21-03-23; Last updated: 29-06-23; Version: 2
//
RX   PubMed=31981984; DOI=10.1016/j.ebiom.2020.102633;
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).
//
RX   PubMed=36516658; DOI=10.1016/j.scr.2022.103001;
RA   Choi J.B., Seo D., Do H.-S., Han Y.-M.;
RT   "Generation of a CRISPR/Cas9-corrected-hiPSC line (DDLABi001-A) from
RT   Fabry disease (FD)-derived iPSCs having alpha-galactosidase (GLA)
RT   gene mutation (c.803_806del).";
RL   Stem Cell Res. 66:103001-103001(2023).
//