Cellosaurus cell line SCVIi010-A (CVCL

Cross-references
Cell line name	SCVIi010-A
Synonyms	SCVI-2182; SCVI 2182; SCVI2182
Accession	CVCL_A7KQ
Resource Identification Initiative	To cite this cell line use: SCVIi010-A (RRID:CVCL_A7KQ)
Comments	From: Stanford Cardiovascular Institute; Palo Alto; USA. Population: Caucasian. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:6251; KCNH2; Simple; p.Ser624Cys (c.1870A>T); ClinVar=VCV000644725; Zygosity=Heterozygous (PubMed=34051449).
Disease	Long QT syndrome 2 (NCIt: C137957) Romano-Ward syndrome (ORDO: Orphanet_101016)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	27Y
Category	Induced pluripotent stem cell
Publications	PubMed=34051449; DOI=10.1016/j.scr.2021.102402; PMCID=PMC10875632 Mondejar-Parreno G., Jahng J.W.S., Belbachir N., Wu B.C., Zhang X.-L., Perez M.V., Badhwar N., Wu J.C. Generation of three heterozygous KCNH2 mutation-carrying human induced pluripotent stem cell lines for modeling LQT2 syndrome. Stem Cell Res. 54:102402-102402(2021)
Cell line databases/resources	hPSCreg; SCVIi010-A
Encyclopedic resources	Wikidata; Q107116878
Entry history
Entry creation	20-May-2021
Last entry update	19-Dec-2024
Version number	5