Cellosaurus cell line UFRJi001-A (CVCL

Cellosaurus UFRJi001-A (CVCL_VF17)

Cross-references
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. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:6240; KCNE1; Simple; p.Ser38Gly (c.112A>G); ClinVar=VCV000132651; Zygosity=Heterozygous (PubMed=30099333). Mutation; HGNC; HGNC:6294; KCNQ1; Simple; c.1394-2A>G; ClinVar=VCV001500718; Zygosity=Homozygous; Note=Splice acceptor mutation (PubMed=30099333).
Disease	Jervell and Lange Nielsen syndrome (NCIt: C84793) Jervell and Lange-Nielsen syndrome (ORDO: Orphanet_90647)
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., da Silva de Araujo D., Dias G.M., Coutinho J.L.A., dos Santos Cruz Filho F.E., Sternick E.B., de Mello e Souza Valente Gubert F., Oliveira J.C.G., Vaz I.M., Borgonovo T., Brofman P.R.S., de 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)
Cell line databases/resources	hPSCreg; UFRJi001-A
Biological sample resources	BioSamples; SAMEA4675330
Encyclopedic resources	Wikidata; Q54990136
Entry history
Entry creation	14-May-2018
Last entry update	19-Dec-2024
Version number	12