Cellosaurus cell line FD-1-Cor (CVCL

Cellosaurus FD-1-Cor (CVCL_C6TR)

Cross-references
Cell line name	FD-1-Cor
Synonyms	FD1(cor); DDLABi001-A
Accession	CVCL_C6TR
Resource Identification Initiative	To cite this cell line use: FD-1-Cor (RRID:CVCL_C6TR)
Comments	From: Korea Advanced Institute of Science and Technology; Daejeon; South Korea. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:4296; GLA; Simple_corrected; p.Leu268fs*1 (c.803_806del); Zygosity=Hemizygous; Note=By CRISPR/Cas9 (PubMed=31981984; PubMed=36516658).
Disease	Fabry disease (NCIt: C84701) Fabry disease (ORDO: Orphanet_324)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy	Parent: CVCL_C6TP (FD-1-iPSC)
Sex of cell	Male
Age at sampling	37Y
Category	Induced pluripotent stem cell
Publications	PubMed=31981984; DOI=10.1016/j.ebiom.2020.102633; PMCID=PMC6992938 Hyo-Sang Do, Sang-Wook Park, Ilkyun Im, Donghyuk Seo, Han-Wook Yoo, Heounjeong Go, Yoo Hyung Kim, Gou Young Koh, Beom-Hee Lee, Yong-Mahn Han; Enhanced thrombospondin-1 causes dysfunction of vascular endothelial cells derived from Fabry disease-induced pluripotent stem cells. EBioMedicine 52:102633.1-102633.15(2020) PubMed=36516658; DOI=10.1016/j.scr.2022.103001 Jong Bin Choi, Donghyuk Seo, Hyo-Sang Do, Yong-Mahn Han; Generation of a CRISPR/Cas9-corrected-hiPSC line (DDLABi001-A) from Fabry disease (FD)-derived iPSCs having alpha-galactosidase (GLA) gene mutation (c.803_806del). Stem Cell Res. 66:103001-103001(2023)
Cell line databases/resources	hPSCreg; DDLABi001-A
Encyclopedic resources	Wikidata; Q117704330
Entry history
Entry creation	21-Mar-2023
Last entry update	19-Dec-2024
Version number	3