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Cellosaurus UKKi030-A (CVCL_RM71)

[Text version]
Cell line name UKKi030-A
Synonyms NP0134-6D
Accession CVCL_RM71
Resource Identification Initiative To cite this cell line use: UKKi030-A (RRID:CVCL_RM71)
Comments From: Institute for Neurophysiology, Medical Faculty, University of Cologne; Cologne; Germany.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 10593; SCN5A; Simple; p.Gln646Argfs*5 (c.1936delC); ClinVar=VCV000179829; Zygosity=Heterozygous (EBiSC=UKKi030-A).
Disease Brugada syndrome (NCIt: C142891)
Brugada syndrome (ORDO: Orphanet_130)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_RM72 ! UKKi030-B
CVCL_RM73 ! UKKi030-C
Sex of cell Male
Age at sampling 65-69Y
Category Induced pluripotent stem cell
Cell line collections (Providers) EBiSC; UKKi030-A
ECACC; 66540875 - Discontinued
Cell line databases/resources hPSCreg; UKKi030-A
Biological sample resources BioSamples; SAMEA104494409
Encyclopedic resources Wikidata; Q54990508
Entry history
Entry creation05-Mar-2018
Last entry update30-Jan-2024
Version number11