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Cellosaurus UKKi019-A (CVCL_LD28)

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Cell line name UKKi019-A
Synonyms NP0081-1A
Accession CVCL_LD28
Resource Identification Initiative To cite this cell line use: UKKi019-A (RRID:CVCL_LD28)
Comments From: Institute for Neurophysiology, Medical Faculty, University of Cologne; Cologne; Germany.
Omics: Genome sequenced.
Derived from sampling site: Peripheral blood.
Sequence variations Mutation; HGNC; 6251; KCNH2; Simple; p.Tyr427Cys (c.1280A>G); ClinVar=VCV000067179; Zygosity=Heterozygous (EBiSC).
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_LD29 ! UKKi019-B
CVCL_LD30 ! UKKi019-C
Sex of cell Female
Age at sampling 20-24Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections EBiSC; UKKi019-A
ECACC; 66540480
Cell line databases/resources hPSCreg; UKKi019-A
Biological sample resources BioSamples; SAMEA17624668
Other Wikidata; Q54990469
Entry history
Entry creation22-Aug-2017
Last entry update20-May-2021
Version number9