ID   WAe009-A-79
AC   CVCL_B5QK
SY   KCNQ1L114P/+; ANZHENe010-A-79
DR   BioSamples; SAMEA10987223
DR   hPSCreg; WAe009-A-79
DR   Wikidata; Q112041923
RX   PubMed=37244124;
CC   From: Anzhen Hospital, Capital Medical University; Beijing; China.
CC   Sequence variation: Mutation; HGNC; 6294; KCNQ1; Simple_edited; p.Leu114Pro (c.341T>C); ClinVar=VCV000053036; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=37244124).
CC   Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
CC   Cell type: Embryonic stem cell; CL=CL_0002322.
DI   NCIt; C85049; Long QT syndrome 1
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: 17-03-22; Last updated: 29-06-23; Version: 4
//
RX   PubMed=37244124; DOI=10.1016/j.scr.2023.103119;
RA   Wang H.-Y., Guo T.-W., Lan F.;
RT   "Generation of a human embryonic stem cell line WAe009-A-79 carrying a
RT   long QT syndrome mutation in KCNQ1.";
RL   Stem Cell Res. 70:103119-103119(2023).
//