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Cellosaurus LUMCi039-A (CVCL_A7QT)

[Text version]
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; 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

PubMed=27470144; DOI=10.15252/emmm.201606260
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 creation20-May-2021
Last entry update29-Jun-2023
Version number6