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Cellosaurus UKKi018-C (CVCL_LD27)

[Text version]
Cell line name UKKi018-C
Synonyms NP0080-8B
Accession CVCL_LD27
Resource Identification Initiative To cite this cell line use: UKKi018-C (RRID:CVCL_LD27)
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.Glu58Gly (c.173A>G); ClinVar=VCV000067257; Zygosity=Heterozygous (EBiSC=UKKi018-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_LD25 ! UKKi018-A
CVCL_LD26 ! UKKi018-B
Sex of cell Female
Age at sampling 20-24Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) EBiSC; UKKi018-C
ECACC; 66540569 - Discontinued
Cell line databases/resources hPSCreg; UKKi018-C
Biological sample resources BioSamples; SAMEA103988380
Encyclopedic resources Wikidata; Q54990468
Sequence databases EGA; EGAS00001002755
Entry history
Entry creation22-Aug-2017
Last entry update30-Jan-2024
Version number13