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Cellosaurus WAe009-A-79 (CVCL_B5QK)

[Text version]
Cell line name WAe009-A-79
Synonyms KCNQ1L114P/+; ANZHENe010-A-79
Accession CVCL_B5QK
Resource Identification Initiative To cite this cell line use: WAe009-A-79 (RRID:CVCL_B5QK)
Comments From: Anzhen Hospital, Capital Medical University; Beijing; 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; p.Leu114Pro (c.341T>C); ClinVar=VCV000053036; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=37244124).
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=37244124; DOI=10.1016/j.scr.2023.103119
Hong-Yue Wang, Tian-Wei Guo, Feng Lan;
Generation of a human embryonic stem cell line WAe009-A-79 carrying a long QT syndrome mutation in KCNQ1.
Stem Cell Res. 70:103119-103119(2023)

Cross-references
Cell line databases/resources hPSCreg; WAe009-A-79
Biological sample resources BioSamples; SAMEA10987223
Encyclopedic resources Wikidata; Q112041923
Entry history
Entry creation17-Mar-2022
Last entry update19-Dec-2024
Version number5