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Cellosaurus KSCBi014-A (CVCL_B5RZ)

[Text version]
Cell line name KSCBi014-A
Synonyms DPHCi01; LQT01-hiPSC
Accession CVCL_B5RZ
Resource Identification Initiative To cite this cell line use: KSCBi014-A (RRID:CVCL_B5RZ)
Comments From: National Institute of Health, Korea-National Stem Cell Bank (KSCB); Cheongwon-gun; South Korea.
Population: Korean.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 6251; KCNH2; Simple; p.Thr152Profs*14 (c.453delC); ClinVar=VCV000200598; Zygosity=Heterozygous (PubMed=34678663).
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 Female
Age at sampling 55Y
Category Induced pluripotent stem cell
Publications

PubMed=34678663; DOI=10.1016/j.scr.2021.102570
Lee Y., Koo S.K., Kim J.-H.
Establishment of a human-induced pluripotent stem cell line, KSCBi014-A, from a long QT syndrome type 2 patient harboring a KCNH2 mutation.
Stem Cell Res. 57:102570-102570(2021)

Cross-references
Cell line databases/resources hPSCreg; KSCBi014-A
Encyclopedic resources Wikidata; Q111733560
Entry history
Entry creation17-Mar-2022
Last entry update29-Jun-2023
Version number4