ID   L1-C5
AC   CVCL_WV81
DR   Wikidata; Q95980748
RX   PubMed=31226583;
CC   From: Peking University; Beijing; China.
CC   Population: Chinese.
CC   Sequence variation: Mutation; HGNC; HGNC:6294; KCNQ1; Simple; c.605-2A>G; ClinVar=VCV001342708; Zygosity=Heterozygous; Note=Splice acceptor mutation (from autologous cell line L1-C4).
CC   Sequence variation: Mutation; HGNC; HGNC:6294; KCNQ1; Simple; p.Gly272Asp (c.815G>A) (p.Gly145Asp, c.434G>A); ClinVar=VCV000053109; Zygosity=Heterozygous (from autologous cell line L1-C4).
CC   Derived from site: In situ; Urine; UBERON=UBERON_0001088.
CC   Cell type: Epithelial cell of kidney; CL=CL_0002518.
DI   NCIt; C85049; Long QT syndrome 1
DI   ORDO; Orphanet_101016; Romano-Ward syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_WV80 ! L1-C4
SX   Male
AG   Children
CA   Induced pluripotent stem cell
DT   Created: 05-07-19; Last updated: 19-12-24; Version: 13
//
RX   PubMed=31226583; DOI=10.1016/j.scr.2019.101483;
RA   Wang Z., Wang L.-P., Liu W.-L., Hu D.-Y., Gao Y.-F., Ge Q., Liu X.,
RA   Li L., Wang Y.-M., Wang S.-Q., Li C.-L.;
RT   "Pathogenic mechanism and gene correction for LQTS-causing double
RT   mutations in KCNQ1 using a pluripotent stem cell model.";
RL   Stem Cell Res. 38:101483-101483(2019).
//