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Cellosaurus UFRJi003-A (CVCL_VF19)

[Text version]
Cell line name UFRJi003-A
Synonyms Pac24 cl1
Accession CVCL_VF19
Resource Identification Initiative To cite this cell line use: UFRJi003-A (RRID:CVCL_VF19)
Comments From: Universidade Federal do Rio de Janeiro; Rio de Janeiro; Brazil.
Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 6240; KCNE1; Simple; p.Ser38Gly (c.112A>G); ClinVar=VCV000132651; Zygosity=Heterozygous (PubMed=30099333).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 13Y
Category Induced pluripotent stem cell
Publications

PubMed=30099333; DOI=10.1016/j.scr.2018.07.016
Kasai-Brunswick T.H., Silva dos Santos D., Ferreira R.P., da Silva de Araujo D., Dias G.M., Coutinho J.L.A., Cruz F.E.S.F., Sternick E.B., de Mello e Souza Valente Gubert F., Oliveira J.C.G., Vaz I.M., Borgonovo T., Brofman P.R.S., Moura-Neto R.S., Silva R., Campos-de-Carvalho A.C., Carvalho A.B.
Generation of patient-specific induced pluripotent stem cell lines from one patient with Jervell and Lange-Nielsen syndrome, one with type 1 long QT syndrome and two healthy relatives.
Stem Cell Res. 31:174-180(2018)

Cross-references
Cell line databases/resources hPSCreg; UFRJi003-A
Encyclopedic resources Wikidata; Q54990138
Entry history
Entry creation14-May-2018
Last entry update29-Jun-2023
Version number7