Cellosaurus cell line INSAi002-A (CVCL

Cross-references
Cell line name	INSAi002-A
Synonyms	FD-1
Accession	CVCL_YC30
Resource Identification Initiative	To cite this cell line use: INSAi002-A (RRID:CVCL_YC30)
Comments	From: Instituto Nacional de Saude Ricardo Jorge; Porto; Portugal. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; 4296; GLA; Simple; p.Trp287Ter (c.861G>A); ClinVar=VCV000010736; Zygosity=Hemizygous (PubMed=32388441).
Disease	Fabry disease (NCIt: C84701) Fabry disease (ORDO: Orphanet_324)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	Age unspecified
Category	Induced pluripotent stem cell
Publications	PubMed=32388441; DOI=10.1016/j.scr.2020.101794 Duarte A.J., Ribeiro D., Santos R., Moreira L., Braganca J., Amaral O. Induced pluripotent stem cell line (INSAi002-A) from a Fabry disease patient hemizygote for the rare p.W287X mutation. Stem Cell Res. 45:101794-101794(2020)
Cell line databases/resources	hPSCreg; INSAi002-A
Biological sample resources	BioSamples; SAMEA6724117
Encyclopedic resources	Wikidata; Q94318170
Entry history
Entry creation	19-Dec-2019
Last entry update	29-Jun-2023
Version number	7