ID   WAe009-A-48
AC   CVCL_A4TZ
SY   SPHe010-A-48
DR   BioSamples; SAMEA8093237
DR   hPSCreg; WAe009-A-48
DR   Wikidata; Q107117421
RX   PubMed=33517120;
CC   From: Shenzhen People's Hospital; Shenzhen; China.
CC   Sequence variation: Mutation; HGNC; 10593; SCN5A; Simple; p.Glu1784Lys (c.5350G>A) (p.Glu1783Lys, c.5347G>A); ClinVar=VCV000009377; Zygosity=Heterozygous; Note=By method not specified (PubMed=33517120).
CC   Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
CC   Cell type: Embryonic stem cell; CL=CL_0002322.
DI   NCIt; C137959; Long QT syndrome 3
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: 20-05-21; Last updated: 29-06-23; Version: 5
//
RX   PubMed=33517120; DOI=10.1016/j.scr.2021.102194;
RA   Yang X.-F., Wu F.-J., Zhong J., Li F.-R.;
RT   "Establishment of human embryonic stem cell WAe009-A-48 carrying a
RT   long QT syndrome mutation in SCN5A.";
RL   Stem Cell Res. 51:102194-102194(2021).
//