ID   WAe009-A-43
AC   CVCL_A9XX
SY   FAHGMUe010-A-43
DR   BioSamples; SAMEA8072992
DR   hPSCreg; WAe009-A-43
DR   Wikidata; Q102115103
RX   PubMed=32911324;
CC   From: The First Affiliated Hospital of Guangxi Medical University; Guangxi; China.
CC   Sequence variation: Mutation; HGNC; 6251; KCNH2; Simple_edited; p.Tyr475Cys (c.1424A>G); ClinVar=VCV000067199; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=32911324).
CC   Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
CC   Cell type: Embryonic stem cell; CL=CL_0002322.
DI   NCIt; C137957; Long QT syndrome 2
DI   ORDO; Orphanet_101016; Romano-Ward syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_9773 ! WA09
SX   Female
AG   Blastocyst stage
CA   Embryonic stem cell
DT   Created: 29-10-20; Last updated: 05-10-23; Version: 6
//
RX   PubMed=32911324; DOI=10.1016/j.scr.2020.101976;
RA   Wu X.-D., Zhao Y.-T., Wang X.-T.;
RT   "Generation of a human embryonic stem cell line (WAe009-A-43) carrying
RT   a long QT syndrome related mutation in KCNH2 gene.";
RL   Stem Cell Res. 48:101976-101976(2020).
//