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Cellosaurus UKKi034-C (CVCL_VF41)

[Text version]
Cell line name UKKi034-C
Synonyms NP0079-C; NP0079-16H
Accession CVCL_VF41
Resource Identification Initiative To cite this cell line use: UKKi034-C (RRID:CVCL_VF41)
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.Ser277Leu (c.830C>T) (p.Ser150Leu, c.449C>T); ClinVar=VCV000053116; Zygosity=Heterozygous (EBiSC=UKKi034-C).
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_VF39 ! UKKi034-A
CVCL_VF40 ! UKKi034-B
Sex of cell Female
Age at sampling 25-29Y
Category Induced pluripotent stem cell
Cell line collections (Providers) EBiSC; UKKi034-C
ECACC; 66540894 - Discontinued
Cell line databases/resources hPSCreg; UKKi034-C
Biological sample resources BioSamples; SAMEA104615858
Encyclopedic resources Wikidata; Q54990540
Entry history
Entry creation14-May-2018
Last entry update30-Jan-2024
Version number11