ID   WAe009-A-88
AC   CVCL_C0JD
SY   KCNH2M574V/+; SPHe010-A-88
DR   BioSamples; SAMEA14307683
DR   hPSCreg; WAe009-A-88
DR   Wikidata; Q112930553
RX   PubMed=35526388;
CC   From: Shenzhen People's Hospital; Shenzhen; China.
CC   Sequence variation: Mutation; HGNC; 6251; KCNH2; Simple_edited; p.Met574Val (c.1720 A>G); ClinVar=VCV000067252; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=35526388).
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: 23-06-22; Last updated: 29-06-23; Version: 4
//
RX   PubMed=35526388; DOI=10.1016/j.scr.2022.102795;
RA   Wen H., Sun L.-X., Zhong J.-Q., Wu F.-J.;
RT   "Establishment of human embryonic stem cell WAe009-A-88 carrying a
RT   long QT syndrome mutation in KCNH2.";
RL   Stem Cell Res. 62:102795-102795(2022).
//