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Cellosaurus UFRJi002-A (CVCL_VF18)

[Text version]
Cell line name UFRJi002-A
Synonyms Pac8 cl7
Accession CVCL_VF18
Resource Identification Initiative To cite this cell line use: UFRJi002-A (RRID:CVCL_VF18)
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; 6240; KCNE1; Simple; p.Ser38Gly (c.112A>G); ClinVar=VCV000132651; Zygosity=Heterozygous (PubMed=30099333).
  • Mutation; HGNC; 6294; KCNQ1; Simple; c.1394-2A>G; ClinVar=VCV001500718; Zygosity=Heterozygous; Note=Splice acceptor mutation (PubMed=30099333).
Disease Long QT syndrome 1 (NCIt: C85049)
Romano-Ward syndrome (ORDO: Orphanet_101016)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 33Y
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; UFRJi002-A
Biological sample resources BioSamples; SAMEA4675331
Encyclopedic resources Wikidata; Q54990137
Entry history
Entry creation14-May-2018
Last entry update29-Jun-2023
Version number11