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Cellosaurus UKKi016-B (CVCL_VF34)

[Text version]
Cell line name UKKi016-B
Synonyms NP0078-12
Accession CVCL_VF34
Resource Identification Initiative To cite this cell line use: UKKi016-B (RRID:CVCL_VF34)
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-B).
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_VF33 ! UKKi016-A
CVCL_VF35 ! UKKi016-C
Sex of cell Male
Age at sampling 30-34Y
Category Induced pluripotent stem cell
Cell line collections (Providers) EBiSC; UKKi016-B
ECACC; 66540887 - Discontinued
Cell line databases/resources hPSCreg; UKKi016-B
Biological sample resources BioSamples; SAMEA104615855
Encyclopedic resources Wikidata; Q54990432
Entry history
Entry creation14-May-2018
Last entry update30-Jan-2024
Version number10