ID   SCVIi010-A
AC   CVCL_A7KQ
SY   SCVI-2182; SCVI 2182; SCVI2182
DR   hPSCreg; SCVIi010-A
DR   Wikidata; Q107116878
RX   PubMed=34051449;
CC   From: Stanford Cardiovascular Institute; Palo Alto; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 6251; KCNH2; Simple; p.Ser624Cys (c.1870A>T); ClinVar=VCV000644725; Zygosity=Heterozygous (PubMed=34051449).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C137957; Long QT syndrome 2
DI   ORDO; Orphanet_101016; Romano-Ward syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   27Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=34051449; DOI=10.1016/j.scr.2021.102402; PMCID=PMC10875632;
RA   Mondejar-Parreno G., Jahng J.W.S., Belbachir N., Wu B.C., Zhang X.-L.,
RA   Perez M.V., Badhwar N., Wu J.C.;
RT   "Generation of three heterozygous KCNH2 mutation-carrying human
RT   induced pluripotent stem cell lines for modeling LQT2 syndrome.";
RL   Stem Cell Res. 54:102402-102402(2021).
//