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Cellosaurus KSCBi015-A (CVCL_B0PU)

[Text version]
Cell line name KSCBi015-A
Synonyms DPHCi08; LQT08-hiPSC
Accession CVCL_B0PU
Resource Identification Initiative To cite this cell line use: KSCBi015-A (RRID:CVCL_B0PU)
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; 6294; KCNQ1; Simple; p.Arg190Gln (c.569G>A) (p.Arg63Gln, c.188G>A); ClinVar=VCV000003117; Zygosity=Heterozygous (PubMed=34509919).
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
Age at sampling 27Y
Category Induced pluripotent stem cell
Publications

PubMed=34509919; DOI=10.1016/j.scr.2021.102521
Lee Y., Park H., Kyung Koo S., Kim J.-H.
Establishment of a human induced pluripotent stem cell line, KSCBi015-A, from a long QT syndrome type 1 patient harboring a KCNQ1 mutation.
Stem Cell Res. 56:102521-102521(2021)

Cross-references
Cell line databases/resources hPSCreg; KSCBi015-A
Encyclopedic resources Wikidata; Q108820631
Entry history
Entry creation23-Sep-2021
Last entry update29-Jun-2023
Version number4