ID   UFRJi007-A
AC   CVCL_WN10
SY   UFRJi007A
DR   hPSCreg; UFRJi007-A
DR   Wikidata; Q98133870
RX   PubMed=31301488;
CC   From: Universidade Federal do Rio de Janeiro; Rio de Janeiro; Brazil.
CC   Sequence variation: Mutation; HGNC; 4010; FUS; Simple; c.521_523+3delGAGGTG; ClinVar=VCV000540281; Zygosity=Unspecified (PubMed=31301488).
CC   Sequence variation: Mutation; HGNC; 11179; SOD1; Simple; p.Phe21Cys (c.62T>G) (F20C); ClinVar=VCV001459352; Zygosity=Unspecified (PubMed=31301488).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C168750; Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia
DI   ORDO; Orphanet_803; Amyotrophic lateral sclerosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   49Y
CA   Induced pluripotent stem cell
DT   Created: 24-05-19; Last updated: 29-06-23; Version: 8
//
RX   PubMed=31301488; DOI=10.1016/j.scr.2019.101490;
RA   de Mello e Souza Valente Gubert F., Vasques J.F., Cozendey T.D.,
RA   Domizi P., Toledo M.F., Kasai-Brunswick T.H., Hochman-Mendez C.,
RA   Junior M.C., Zembrzuski V.M., Loureiro M.P.S., Lima J.M.B., Gress C.H.,
RA   Cabello G.M.K., Cabello P.H., Borgonovo T., Vaz I.M., Silva R.,
RA   Mendez-Otero R.;
RT   "Generation of patient-specific pluripotent induced stem cell line
RT   UFRJi007-A from a Brazilian familial amyotrophic lateral sclerosis
RT   patient.";
RL   Stem Cell Res. 39:101490-101490(2019).
//