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Cellosaurus UKKi008-A (CVCL_9S60)

[Text version]

Cell line name UKKi008-A
Synonyms NP0016-3; V240M-LQTS-3
Accession CVCL_9S60
Resource Identification Initiative To cite this cell line use: UKKi008-A (RRID:CVCL_9S60)
Comments From: Institute for Neurophysiology, Medical Faculty; University of Cologne; Germany.
Sequence variations Heterozygous for SCN5A p.Val240Met (c.718G>A) (ClinVar=VCV000068039) (PubMed=24349418).
Disease Long QT syndrome 3 (NCIt: C137959)
Romano-Ward syndrome (ORDO: Orphanet_101016)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 30-34Y
Category Induced pluripotent stem cell
Publications

PubMed=24349418; DOI=10.1371/journal.pone.0083005
Fatima A., Kaifeng S., Dittmann S., Xu G., Gupta M.K., Linke M., Zechner U., Nguemo F., Milting H., Farr M., Hescheler J., Saric T.
The disease-specific phenotype in cardiomyocytes derived from induced pluripotent stem cells of two long QT syndrome type 3 patients.
PLoS ONE 8:E83005-E83005(2013)

Cross-references
Cell line collections EBiSC; UKKi008-A
ECACC; 66540015
Cell line databases/resources hPSCreg; UKKi008-A
SKIP; SKIP002460
Biological sample resources BioSamples; SAMEA4583697
Other Wikidata; Q54990425
Entry history
Entry creation23-Feb-2016
Last entry update02-Jul-2020
Version number8