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Cellosaurus UKKi009-A (CVCL_9S61)

[Text version]
Cell line name UKKi009-A
Synonyms NP0011-8
Accession CVCL_9S61
Resource Identification Initiative To cite this cell line use: UKKi009-A (RRID:CVCL_9S61)
Comments From: Institute for Neurophysiology, Medical Faculty, University of Cologne; Cologne; Germany.
Population: Caucasian; German.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:6251; KCNH2; Simple; p.Leu1012Profs*55 (c.3035_3045delTCCCTCGATGC); Zygosity=Heterozygous (PubMed=27345990).
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_9S62 ! UKKi009-B
Sex of cell Female
Age at sampling 35-39Y
Category Induced pluripotent stem cell
Publications

PubMed=27345990; DOI=10.1016/j.scr.2015.12.039
Fatima A., Ivanyuk D., Herms S., Heilmann-Heimbach S., O'Shea O., Chapman C., Izsvak Z., Farr M., Hescheler J., Saric T.
Generation of human induced pluripotent stem cell line from a patient with a long QT syndrome type 2.
Stem Cell Res. 16:304-307(2016)

Cross-references
Cell line collections (Providers) EBiSC; UKKi009-A
ECACC; 66540002 - Discontinued
ECACC; 66540031 - Discontinued
Cell line databases/resources hPSCreg; UKKi009-A
SKIP; SKIP002461
Biological sample resources BioSamples; SAMEA4583816
Encyclopedic resources Wikidata; Q54990426
Entry history
Entry creation23-Feb-2016
Last entry update19-Dec-2024
Version number17