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Cellosaurus UFRJi001-A (CVCL_VF17)

[Text version]

Cell line name UFRJi001-A
Synonyms Pac6cl3; Pac6 cl3
Accession CVCL_VF17
Resource Identification Initiative To cite this cell line use: UFRJi001-A (RRID:CVCL_VF17)
Comments From: Universidade Federal do Rio de Janeiro; Rio de Janeiro; Brazil.
Sequence variations Heterozygous for KCNE1 p.Ser38Gly (c.112A>G) (PubMed=30099333).
Homozygous for KCNQ1 c.1394-2A>G; splice acceptor mutation (PubMed=30099333).
Disease Jervell and Lange Nielsen syndrome (NCIt: C84793)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 3Y
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., Araujo D.S., Dias G.M., Coutinho J.L.A., Cruz F.E.S.F., Sternick E.B., Gubert F.M., 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; UFRJi001-A
Biological sample resources BioSamples; SAMEA4675330
Other Wikidata; Q54990136
Entry history
Entry creation14-May-2018
Last entry updated05-Jul-2019
Version number3