ID   WAe009-A-74
AC   CVCL_B3S7
SY   KCNH2Y616C/+; SPHe010-A-74
DR   BioSamples; SAMEA10772827
DR   hPSCreg; WAe009-A-74
DR   Wikidata; Q110433970
RX   PubMed=35247842;
CC   From: Shenzhen People's Hospital; Shenzhen; China.
CC   Sequence variation: Mutation; HGNC; 6251; KCNH2; Simple_edited; p.Tyr616Cys (c.1847A>G); ClinVar=VCV000067295; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=35247842).
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: 16-12-21; Last updated: 29-06-23; Version: 5
//
RX   PubMed=35247842; DOI=10.1016/j.scr.2022.102725;
RA   Sun L.-X., Zhong J.-Q., Wu F.-J., Li F.-R., Yang X.-F., Zeng Z.-Y.;
RT   "Establishment of human embryonic stem cell WAe009-A-74 carrying a
RT   long QT syndrome mutation in KCNH2.";
RL   Stem Cell Res. 60:102725-102725(2022).
//