Cellosaurus cell line UFRJi005-A (CVCL

Cross-references
Cell line name	UFRJi005-A
Synonyms	fALS
Accession	CVCL_WN08
Resource Identification Initiative	To cite this cell line use: UFRJi005-A (RRID:CVCL_WN08)
Comments	From: Universidade Federal do Rio de Janeiro; Rio de Janeiro; Brazil. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:10555; ATXN2; Repeat_expansion; p.Gln166[36] (p.Gln166(>=33)); ClinVar=VCV000065668; Zygosity=Heterozygous (PubMed=31077962). Mutation; HGNC; HGNC:12649; VAPB; Simple; p.Pro56Ser (c.166C>T); ClinVar=VCV000004806; Zygosity=Heterozygous (PubMed=31077962).
Disease	Amyotrophic lateral sclerosis 8 (NCIt: C168751) Amyotrophic lateral sclerosis (ORDO: Orphanet_803)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	58Y
Category	Induced pluripotent stem cell
Publications	PubMed=31077962; DOI=10.1016/j.scr.2019.101448 de Mello e Souza Valente Gubert F., Vasques J.F., Cozendey T.D., Domizi P., Toledo M.F., Kasai-Brunswick T.H., Loureiro M.P.S., Lima J.M.B., Gress C.H., Cabello G.M.K., Cabello P.H., Borgonovo T., Vaz I.M., Silva R., Mendez-Otero R. Generation of four patient-specific pluripotent induced stem cell lines from two Brazilian patients with amyotrophic lateral sclerosis and two healthy subjects. Stem Cell Res. 37:101448-101448(2019)
Cell line databases/resources	hPSCreg; UFRJi005-A
Encyclopedic resources	Wikidata; Q98133868
Entry history
Entry creation	24-May-2019
Last entry update	19-Dec-2024
Version number	7