ID   INSAi002-A
AC   CVCL_YC30
SY   FD-1
DR   BioSamples; SAMEA6724117
DR   hPSCreg; INSAi002-A
DR   Wikidata; Q94318170
RX   PubMed=32388441;
CC   From: Instituto Nacional de Saude Ricardo Jorge; Porto; Portugal.
CC   Sequence variation: Mutation; HGNC; HGNC:4296; GLA; Simple; p.Trp287Ter (c.861G>A); ClinVar=VCV000010736; Zygosity=Hemizygous (PubMed=32388441).
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   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 19-12-24; Version: 8
//
RX   PubMed=32388441; DOI=10.1016/j.scr.2020.101794;
RA   Duarte, Ana Joana
RA   Ribeiro, Diogo
RA   Santos, Renato
RA   Moreira, Luciana
RA   Braganca, Jose
RA   Amaral, Olga
RT   "Induced pluripotent stem cell line (INSAi002-A) from a Fabry disease
RT   patient hemizygote for the rare p.W287X mutation.";
RL   Stem Cell Res. 45:101794-101794(2020).
//