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Cellosaurus WAe009-A-43 (CVCL_A9XX)

[Text version]

Cell line name WAe009-A-43
Synonyms FAHGMUe010-A-43
Accession CVCL_A9XX
Resource Identification Initiative To cite this cell line use: WAe009-A-43 (RRID:CVCL_A9XX)
Comments From: The First Affiliated Hospital of Guangxi Medical University; Guangxi; China.
Sequence variations
  • Mutation; HGNC; 6251; KCNH2; Simple; p.Tyr475Cys (c.1424A>G); ClinVar=VCV000067199; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=32911324).
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=32911324; DOI=10.1016/j.scr.2020.101976
Wu X.-D., Zhao Y.-T., Wang X.-T.
Generation of a human embryonic stem cell line (WAe009-A-43) carrying a long QT syndrome related mutation in KCNH2 gene.
Stem Cell Res. 48:101976-101976(2020)

Cross-references
Cell line databases/resources hPSCreg; WAe009-A-43
Biological sample resources BioSamples; SAMEA8072992
Encyclopedic resources Wikidata; Q102115103
Entry history
Entry creation29-Oct-2020
Last entry update20-May-2021
Version number3