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Cellosaurus SCVIi010-A (CVCL_A7KQ)

[Text version]
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; 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
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)

Cross-references
Cell line databases/resources hPSCreg; SCVIi010-A
Encyclopedic resources Wikidata; Q107116878
Entry history
Entry creation20-May-2021
Last entry update29-Jun-2023
Version number4