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; 6240; KCNE1; Simple; p.Ser38Gly (c.112A>G); ClinVar=VCV000132651; Zygosity=Heterozygous (PubMed=30099333).
CC   Sequence variation: Mutation; 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: 29-06-23; Version: 11
//
RX   PubMed=30099333; DOI=10.1016/j.scr.2018.07.016;
RA   Kasai-Brunswick T.H., Silva dos Santos D., Ferreira R.P.,
RA   da Silva de Araujo D., Dias G.M., Coutinho J.L.A., Cruz F.E.S.F.,
RA   Sternick E.B., de Mello e Souza Valente Gubert F., Oliveira J.C.G.,
RA   Vaz I.M., Borgonovo T., Brofman P.R.S., Moura-Neto R.S., Silva R.,
RA   Campos-de-Carvalho A.C., Carvalho A.B.;
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).
//