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Cellosaurus UKKi023-C (CVCL_LD39)

[Text version]
Cell line name UKKi023-C
Synonyms NP0126-6
Accession CVCL_LD39
Resource Identification Initiative To cite this cell line use: UKKi023-C (RRID:CVCL_LD39)
Comments From: Institute for Neurophysiology, Medical Faculty, University of Cologne; Cologne; Germany.
Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 6251; KCNH2; Simple; p.Arg531Trp (c.1591C>T); ClinVar=VCV000067218; Zygosity=Heterozygous (EBiSC=UKKi023-C).
Disease Long QT syndrome 2 (NCIt: C137957)
Romano-Ward syndrome (ORDO: Orphanet_101016)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_LD37 ! UKKi023-A
CVCL_LD38 ! UKKi023-B
Sex of cell Male
Age at sampling 50-54Y
Category Induced pluripotent stem cell
Cell line collections (Providers) EBiSC; UKKi023-C
ECACC; 66540487 - Discontinued
Cell line databases/resources hPSCreg; UKKi023-C
Biological sample resources BioSamples; SAMEA17632918
Encyclopedic resources Wikidata; Q54990486
Entry history
Entry creation22-Aug-2017
Last entry update30-Jan-2024
Version number12