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Cellosaurus CIAUi002-A (CVCL_C9LT)

[Text version]
Cell line name CIAUi002-A
Synonyms UBC3-A2
Accession CVCL_C9LT
Resource Identification Initiative To cite this cell line use: CIAUi002-A (RRID:CVCL_C9LT)
Comments From: Molecular Cardiology, Centenary Institute of Cancer Medicine and Cell Biology; Camperdown; Australia.
Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:10593; SCN5A; Simple; c.392+3A>G; ClinVar=VCV000918002; Zygosity=Heterozygous (from autologous cell line CIAUi002-C).
Disease Progressive familial heart block, type Ia (NCIt: C126651)
Familial progressive cardiac conduction defect (ORDO: Orphanet_871)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_C9LU ! CIAUi002-B
CVCL_C9LV ! CIAUi002-C
Sex of cell Female
Age at sampling 30Y
Category Induced pluripotent stem cell
Cross-references
Cell line databases/resources hPSCreg; CIAUi002-A
Encyclopedic resources Wikidata; Q123030931
Entry history
Entry creation05-Oct-2023
Last entry update19-Dec-2024
Version number3