ID   WAe009-A-1D
AC   CVCL_D1GD
SY   CCUHe010-A-1D
DR   BioSamples; SAMEA114467815
DR   hPSCreg; WAe009-A-1D
CC   From: Cancer Center, Union Hospital; Huazhong University of Science and Technology; Wuhan; China.
CC   Sequence variation: Mutation; HGNC; 6294; KCNQ1; Simple_edited; c.1032+2T>C; ClinVar=VCV000939724; Zygosity=Heterozygous; Note=Splice donor mutation. By CRISPR/Cas9 (hPSCreg=WAe009-A-1D).
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: 30-01-24; Version: 1
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