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Cellosaurus UKKi019-C (CVCL_LD30)

[Text version]
Cell line name UKKi019-C
Synonyms NP0081-12C
Accession CVCL_LD30
Resource Identification Initiative To cite this cell line use: UKKi019-C (RRID:CVCL_LD30)
Comments From: Institute for Neurophysiology, Medical Faculty, University of Cologne; Cologne; Germany.
Omics: Genome sequenced.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 6251; KCNH2; Simple; p.Tyr427Cys (c.1280A>G); ClinVar=VCV000067179; Zygosity=Heterozygous (EBiSC=UKKi019-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_LD28 ! UKKi019-A
CVCL_LD29 ! UKKi019-B
Sex of cell Female
Age at sampling 20-24Y
Category Induced pluripotent stem cell
Cell line collections (Providers) EBiSC; UKKi019-C
ECACC; 66540482 - Discontinued
Cell line databases/resources hPSCreg; UKKi019-C
Biological sample resources BioSamples; SAMEA17626918
Encyclopedic resources Wikidata; Q54990471
Sequence databases EGA; EGAS00001002755
Entry history
Entry creation22-Aug-2017
Last entry update30-Jan-2024
Version number13