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Cellosaurus WAe009-A-1D (CVCL_D1GD)

[Text version]
Cell line name WAe009-A-1D
Synonyms CCUHe010-A-1D
Accession CVCL_D1GD
Resource Identification Initiative To cite this cell line use: WAe009-A-1D (RRID:CVCL_D1GD)
Comments From: Cancer Center, Union Hospital, Huazhong University of Science and Technology; Wuhan; China.
Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
Cell type: Embryonic stem cell; CL=CL_0002322.
Sequence variations
  • Mutation; HGNC; HGNC:6294; KCNQ1; Simple_edited; c.1032+2T>C; ClinVar=VCV000939724; Zygosity=Heterozygous; Note=By CRISPR/Cas9. Splice donor mutation (PubMed=38653148).
Disease Long QT syndrome 1 (NCIt: C85049)
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=38653148; DOI=10.1016/j.scr.2024.103425
Jiang X.-D., Fu C., Liu Q.-Y., Gao J.-Q.
Generation of a KCNQ1 (c.1032 + 2 T > C) mutant human embryonic stem cell line via CRISPR base editing.
Stem Cell Res. 77:103425-103425(2024)

Cross-references
Cell line databases/resources hPSCreg; WAe009-A-1D
Biological sample resources BioSamples; SAMEA114467815
Encyclopedic resources Wikidata; Q127384684
Entry history
Entry creation30-Jan-2024
Last entry update19-Dec-2024
Version number3