ID   UFRJi005-A
AC   CVCL_WN08
SY   fALS
DR   hPSCreg; UFRJi005-A
DR   Wikidata; Q98133868
RX   PubMed=31077962;
CC   From: Universidade Federal do Rio de Janeiro; Rio de Janeiro; Brazil.
CC   Sequence variation: Mutation; HGNC; 10555; ATXN2; Repeat_expansion; p.Gln166[36] (p.Gln166(>=33)); ClinVar=VCV000065668; Zygosity=Heterozygous (PubMed=31077962).
CC   Sequence variation: Mutation; HGNC; 12649; VAPB; Simple; p.Pro56Ser (c.166C>T); ClinVar=VCV000004806; Zygosity=Heterozygous (PubMed=31077962).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C168751; Amyotrophic lateral sclerosis 8
DI   ORDO; Orphanet_803; Amyotrophic lateral sclerosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   58Y
CA   Induced pluripotent stem cell
DT   Created: 24-05-19; Last updated: 29-06-23; Version: 6
//
RX   PubMed=31077962; DOI=10.1016/j.scr.2019.101448;
RA   de Mello e Souza Valente Gubert F., Vasques J.F., Cozendey T.D.,
RA   Domizi P., Toledo M.F., Kasai-Brunswick T.H., Loureiro M.P.S.,
RA   Lima J.M.B., Gress C.H., Cabello G.M.K., Cabello P.H., Borgonovo T.,
RA   Vaz I.M., Silva R., Mendez-Otero R.;
RT   "Generation of four patient-specific pluripotent induced stem cell
RT   lines from two Brazilian patients with amyotrophic lateral sclerosis
RT   and two healthy subjects.";
RL   Stem Cell Res. 37:101448-101448(2019).
//