ID   UFRJi001-A
AC   CVCL_VF17
SY   Pac6cl3; Pac6 cl3
DR   BioSamples; SAMEA4675330
DR   hPSCreg; UFRJi001-A
DR   Wikidata; Q54990136
RX   PubMed=30099333;
CC   From: Universidade Federal do Rio de Janeiro; Rio de Janeiro; Brazil.
CC   Sequence variation: Mutation; HGNC; HGNC:6240; KCNE1; Simple; p.Ser38Gly (c.112A>G); ClinVar=VCV000132651; Zygosity=Heterozygous (PubMed=30099333).
CC   Sequence variation: Mutation; HGNC; HGNC:6294; KCNQ1; Simple; c.1394-2A>G; ClinVar=VCV001500718; Zygosity=Homozygous; Note=Splice acceptor mutation (PubMed=30099333).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84793; Jervell and Lange Nielsen syndrome
DI   ORDO; Orphanet_90647; Jervell and Lange-Nielsen syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   3Y
CA   Induced pluripotent stem cell
DT   Created: 14-05-18; Last updated: 19-12-24; Version: 12
//
RX   PubMed=30099333; DOI=10.1016/j.scr.2018.07.016;
RA   Kasai-Brunswick, Tais Hanae
RA   Silva dos Santos, Danubia
RA   Ferreira, Raphaela P.
RA   da Silva de Araujo, Dayana
RA   Dias, Glauber Monteiro
RA   Coutinho, Jorge L.A.
RA   dos Santos Cruz Filho, Fernando Eugenio
RA   Sternick, Eduardo Back
RA   de Mello e Souza Valente Gubert, Fernanda
RA   Oliveira, J.C.G.
RA   Vaz, Isadora May
RA   Borgonovo, Tamara
RA   Brofman, Paulo Roberto Slud
RA   de Moura-Neto, Rodrigo Soares
RA   Silva, Rosane
RA   Campos de Carvalho, Antonio Carlos
RA   Carvalho, Adriana Bastos
RT   "Generation of patient-specific induced pluripotent stem cell lines
RT   from one patient with Jervell and Lange-Nielsen syndrome, one with
RT   type 1 long QT syndrome and two healthy relatives.";
RL   Stem Cell Res. 31:174-180(2018).
//