Cellosaurus cell line UTA.00525.LQT2 (CVCL

Cellosaurus UTA.00525.LQT2 (CVCL_RN22)

Cross-references
Cell line name	UTA.00525.LQT2
Accession	CVCL_RN22
Resource Identification Initiative	To cite this cell line use: UTA.00525.LQT2 (RRID:CVCL_RN22)
Comments	From: Institute of Biomedical Technology, University of Tampere; Tampere; Finland. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:6251; KCNH2; Simple; p.Arg176Trp (c.526C>T); ClinVar=VCV000067509; Zygosity=Unspecified (PubMed=22052944; PubMed=27026928).
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_RN21 ! UTA.00514.LQT2
Sex of cell	Male
Age at sampling	61Y
Category	Induced pluripotent stem cell
Publications	PubMed=22052944; DOI=10.1242/dmm.008409; PMCID=PMC3291643 Lahti A.L., Kujala V.J., Chapman H., Koivisto A.-P., Pekkanen-Mattila M., Kerkela E., Hyttinen J.A.K., Kontula K., Swan H., Conklin B.R., Yamanaka S., Silvennoinen O., Aalto-Setala K. Model for long QT syndrome type 2 using human iPS cells demonstrates arrhythmogenic characteristics in cell culture. Dis. Model. Mech. 5:220-230(2012) PubMed=23119085; DOI=10.1371/journal.pone.0048659; PMCID=PMC3485380 Ojala M., Rajala K., Pekkanen-Mattila M., Miettinen M., Huhtala H., Aalto-Setala K. Culture conditions affect cardiac differentiation potential of human pluripotent stem cells. PLoS ONE 7:E48659-E48659(2012) PubMed=27026928; DOI=10.1186/s40064-016-1889-y; PMCID=PMC4771667 Kuusela J., Kujala V.J., Kiviaho A.L., Ojala M., Swan H., Kontula K., Aalto-Setala K. Effects of cardioactive drugs on human induced pluripotent stem cell derived long QT syndrome cardiomyocytes. SpringerPlus 5:234.1-234.13(2016)
Encyclopedic resources	Wikidata; Q54992207
Entry history
Entry creation	05-Mar-2018
Last entry update	19-Dec-2024
Version number	11