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Cellosaurus UKKi016-A (CVCL_VF33)

[Text version]
Cell line name UKKi016-A
Synonyms NP0078-10
Accession CVCL_VF33
Resource Identification Initiative To cite this cell line use: UKKi016-A (RRID:CVCL_VF33)
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; 6294; KCNQ1; Simple; p.Arg366Trp (c.1096C>T); ClinVar=VCV000052955; Zygosity=Heterozygous (EBiSC=UKKi016-A).
Disease Long QT syndrome 1 (NCIt: C85049)
Romano-Ward syndrome (ORDO: Orphanet_101016)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_VF34 ! UKKi016-B
CVCL_VF35 ! UKKi016-C
Sex of cell Male
Age at sampling 30-34Y
Category Induced pluripotent stem cell
Cell line collections (Providers) EBiSC; UKKi016-A
ECACC; 66540886 - Discontinued
Cell line databases/resources hPSCreg; UKKi016-A
Biological sample resources BioSamples; SAMEA104615854
Encyclopedic resources Wikidata; Q54990430
Entry history
Entry creation14-May-2018
Last entry update30-Jan-2024
Version number10