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Cellosaurus WAe009-A-48 (CVCL_A4TZ)

[Text version]

Cell line name WAe009-A-48
Synonyms SPHe010-A-48
Accession CVCL_A4TZ
Resource Identification Initiative To cite this cell line use: WAe009-A-48 (RRID:CVCL_A4TZ)
Comments From: Shenzhen People's Hospital; Shenzhen; China.
Sequence variations
  • Mutation; HGNC; 10593; SCN5A; Simple; p.Glu1784Lys (c.5350G>A) (p.Glu1783Lys, c.5347G>A); ClinVar=VCV000009377; Zygosity=Heterozygous; Note=By method not specified (PubMed=33517120).
Disease Long QT syndrome 3 (NCIt: C137959)
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=33517120; DOI=10.1016/j.scr.2021.102194
Yang X.-F., Wu F.-J., Zhong J., Li F.-R.
Establishment of human embryonic stem cell WAe009-A-48 carrying a long QT syndrome mutation in SCN5A.
Stem Cell Res. 51:102194-102194(2021)

Cross-references
Cell line databases/resources hPSCreg; WAe009-A-48
Biological sample resources BioSamples; SAMEA8093237
Encyclopedic resources Wikidata; Q107117421
Entry history
Entry creation20-May-2021
Last entry update16-Dec-2021
Version number3