Cellosaurus cell line UKKi008-A (CVCL

Cellosaurus UKKi008-A (CVCL_9S60)

Cross-references
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; 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:10593; SCN5A; Simple; p.Val240Met (c.718G>A); ClinVar=VCV000068039; Zygosity=Heterozygous (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; PMCID=PMC3859612 Azra Fatima, Kai-Feng Shao, Sven Dittmann, Guo-Xing Xu, Manoj Kumar Gupta, Matthias Linke, Ulrich Zechner, Filomain Nguemo, Hendrik Milting, Martin Farr, Jurgen Hescheler, Tomo Saric; The disease-specific phenotype in cardiomyocytes derived from induced pluripotent stem cells of two long QT syndrome type 3 patients. PLoS ONE 8:e83005.1-e83005.11(2013)
Cell line collections (Providers)	EBiSC; UKKi008-A ECACC; 66540015 - Discontinued
Cell line databases/resources	hPSCreg; UKKi008-A SKIP; SKIP002460
Biological sample resources	BioSamples; SAMEA4583697
Encyclopedic resources	Wikidata; Q54990425
Entry history
Entry creation	23-Feb-2016
Last entry update	19-Dec-2024
Version number	16