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Cellosaurus WAe009-A-74 (CVCL_B3S7)

[Text version]

Cell line name WAe009-A-74
Synonyms KCNH2Y616C/+; SPHe010-A-74
Accession CVCL_B3S7
Resource Identification Initiative To cite this cell line use: WAe009-A-74 (RRID:CVCL_B3S7)
Comments From: Shenzhen People's Hospital; Shenzhen; China.
Sequence variations
  • Mutation; HGNC; 6251; KCNH2; Simple_edited; p.Tyr616Cys (c.1847A>G); ClinVar=VCV000067295; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=35247842).
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=35247842; DOI=10.1016/j.scr.2022.102725
Sun L.-X., Zhong J.-Q., Wu F.-J., Li F.-R., Yang X.-F., Zeng Z.-Y.
Establishment of human embryonic stem cell WAe009-A-74 carrying a long QT syndrome mutation in KCNH2.
Stem Cell Res. 60:102725-102725(2022)

Cross-references
Cell line databases/resources hPSCreg; WAe009-A-74
Biological sample resources BioSamples; SAMEA10772827
Encyclopedic resources Wikidata; Q110433970
Entry history
Entry creation16-Dec-2021
Last entry update23-Jun-2022
Version number3