Cellosaurus cell line LUMCi039-A (CVCL

Cross-references
Cell line name	LUMCi039-A
Synonyms	LQT1-1781G/A hiPSC; iPSC LQT1R594Q; LUMC0021iKCNQ-30
Accession	CVCL_A7QT
Resource Identification Initiative	To cite this cell line use: LUMCi039-A (RRID:CVCL_A7QT)
Comments	From: Leiden University Medical Center; Leiden; Netherlands. Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:6294; KCNQ1; Simple; p.Arg594Gln (c.1781G>A); ClinVar=VCV000053018; Zygosity=Heterozygous (PubMed=27470144).
Disease	Long QT syndrome 1 (NCIt: C85049) Romano-Ward syndrome (ORDO: Orphanet_101016)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Category	Induced pluripotent stem cell
Publications	PubMed=27470144; DOI=10.15252/emmm.201606260; PMCID=PMC5009811 Sala L., Yu Z.-Y., Ward-van Oostwaard D., van Veldhoven J.P.D., Moretti A., Laugwitz K.-L., Mummery C.L., IJzerman A.P., Bellin M. A new hERG allosteric modulator rescues genetic and drug-induced long-QT syndrome phenotypes in cardiomyocytes from isogenic pairs of patient induced pluripotent stem cells. EMBO Mol. Med. 8:1065-1081(2016)
Cell line databases/resources	hPSCreg; LUMCi039-A
Biological sample resources	BioSamples; SAMEA8307098
Encyclopedic resources	Wikidata; Q107115879
Entry history
Entry creation	20-May-2021
Last entry update	19-Dec-2024
Version number	7