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Cellosaurus UFRJi005-A (CVCL_WN08)

[Text version]
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; 10555; ATXN2; Repeat_expansion; p.Gln166[36] (p.Gln166(>=33)); ClinVar=VCV000065668; Zygosity=Heterozygous (PubMed=31077962).
  • Mutation; 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)

Cross-references
Cell line databases/resources hPSCreg; UFRJi005-A
Encyclopedic resources Wikidata; Q98133868
Entry history
Entry creation24-May-2019
Last entry update29-Jun-2023
Version number6