ID   NCUFi001-A
AC   CVCL_A0MA
DR   hPSCreg; NCUFi001-A
DR   Wikidata; Q108821020
RX   PubMed=34130155;
CC   From: Niccolo Cusano University Foundation; Rome; Italy.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 6294; KCNQ1; Simple; p.Gly314Ser (c.940G>A) (p.Gly187Ser, c.559G>A); ClinVar=VCV000003123; Zygosity=Heterozygous (PubMed=34130155).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C85049; Long QT syndrome 1
DI   ORDO; Orphanet_101016; Romano-Ward syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   17Y
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 29-06-23; Version: 5
//
RX   PubMed=34130155; DOI=10.1016/j.scr.2021.102418;
RA   Lavra L., Magi F., Ulivieri A., Morgante A., Paulis M., Sala L.,
RA   Pedrazzini M., Polisca P., Rocchetti M., Calo L., Sciacchitano S.,
RA   Salehi L.B.;
RT   "Generation and characterization of the human induced pluripotent stem
RT   cell (hiPSC) line NCUFi001-A from a patient carrying KCNQ1 G314S
RT   mutation.";
RL   Stem Cell Res. 54:102418-102418(2021).
//