ID   WAe009-A-1D
AC   CVCL_D1GD
SY   CCUHe010-A-1D
DR   BioSamples; SAMEA114467815
DR   hPSCreg; WAe009-A-1D
DR   Wikidata; Q127384684
RX   PubMed=38653148;
CC   From: Cancer Center, Union Hospital, Huazhong University of Science and Technology; Wuhan; China.
CC   Sequence variation: Mutation; HGNC; HGNC:6294; KCNQ1; Simple_edited; c.1032+2T>C; ClinVar=VCV000939724; Zygosity=Heterozygous; Note=By CRISPR/Cas9. Splice donor mutation (PubMed=38653148).
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: 30-01-24; Last updated: 19-12-24; Version: 3
//
RX   PubMed=38653148; DOI=10.1016/j.scr.2024.103425;
RA   Jiang X.-D., Fu C., Liu Q.-Y., Gao J.-Q.;
RT   "Generation of a KCNQ1 (c.1032 + 2 T > C) mutant human embryonic stem
RT   cell line via CRISPR base editing.";
RL   Stem Cell Res. 77:103425-103425(2024).
//