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Cellosaurus UFRJi007-A (CVCL_WN10)

[Text version]
Cell line name UFRJi007-A
Synonyms UFRJi007A
Accession CVCL_WN10
Resource Identification Initiative To cite this cell line use: UFRJi007-A (RRID:CVCL_WN10)
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; 4010; FUS; Simple; c.521_523+3delGAGGTG; ClinVar=VCV000540281; Zygosity=Unspecified (PubMed=31301488).
  • Mutation; HGNC; 11179; SOD1; Simple; p.Phe21Cys (c.62T>G) (F20C); ClinVar=VCV001459352; Zygosity=Unspecified (PubMed=31301488).
Disease Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (NCIt: C168750)
Amyotrophic lateral sclerosis (ORDO: Orphanet_803)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 49Y
Category Induced pluripotent stem cell
Publications

PubMed=31301488; DOI=10.1016/j.scr.2019.101490
de Mello e Souza Valente Gubert F., Vasques J.F., Cozendey T.D., Domizi P., Toledo M.F., Kasai-Brunswick T.H., Hochman-Mendez C., Junior M.C., Zembrzuski V.M., 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 patient-specific pluripotent induced stem cell line UFRJi007-A from a Brazilian familial amyotrophic lateral sclerosis patient.
Stem Cell Res. 39:101490-101490(2019)

Cross-references
Cell line databases/resources hPSCreg; UFRJi007-A
Encyclopedic resources Wikidata; Q98133870
Entry history
Entry creation24-May-2019
Last entry update29-Jun-2023
Version number8