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Cellosaurus WAe009-A-88 (CVCL_C0JD)

[Text version]

Cell line name WAe009-A-88
Synonyms KCNH2M574V/+; SPHe010-A-88
Accession CVCL_C0JD
Resource Identification Initiative To cite this cell line use: WAe009-A-88 (RRID:CVCL_C0JD)
Comments From: Shenzhen People's Hospital; Shenzhen; China.
Sequence variations
  • Mutation; HGNC; 6251; KCNH2; Simple_edited; p.Met574Val (c.1720 A>G); ClinVar=VCV000067252; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=35526388).
Disease Long QT syndrome 2 (NCIt: C137957)
Romano-Ward syndrome (ORDO: Orphanet_101016)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_9773 (WA09)
Sex of cell Female
Age at sampling Blastocyst stage
Category Embryonic stem cell
Publications

PubMed=35526388; DOI=10.1016/j.scr.2022.102795
Wen H., Sun L.-X., Zhong J.-Q., Wu F.-J.
Establishment of human embryonic stem cell WAe009-A-88 carrying a long QT syndrome mutation in KCNH2.
Stem Cell Res. 62:102795-102795(2022)

Cross-references
Cell line databases/resources hPSCreg; WAe009-A-88
Biological sample resources BioSamples; SAMEA14307683
Entry history
Entry creation23-Jun-2022
Last entry update23-Jun-2022
Version number1