ID   WAe009-A-86
AC   CVCL_C0JE
SY   SPHe010-A-86
DR   BioSamples; SAMEA13372015
DR   hPSCreg; WAe009-A-86
DR   Wikidata; Q112930552
CC   From: Shenzhen People's Hospital; Shenzhen; China.
CC   Sequence variation: Mutation; HGNC; 6251; KCNH2; Simple_edited; p.Arg541Cys (c.1621 C>T); ClinVar=VCV000937094; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (hPSCreg=WAe009-A-86).
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: 23-06-22; Last updated: 29-06-23; Version: 4
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