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Cellosaurus KSCBi010-A (CVCL_WR22)

[Text version]
Cell line name KSCBi010-A
Synonyms DKH005i-A; DHK-005iA; DKHi005-A
Accession CVCL_WR22
Resource Identification Initiative To cite this cell line use: KSCBi010-A (RRID:CVCL_WR22)
Comments From: National Institute of Health, Korea-National Stem Cell Bank (KSCB); Cheongwon-gun; South Korea.
Population: Korean.
Omics: SNP array analysis.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 18340; WDR19; Simple; p.Arg1178Glu (c.3533G>A); Zygosity=Homozygous (PubMed=31734643).
Disease Senior-Loken syndrome (NCIt: C168588)
Senior-Loken syndrome (ORDO: Orphanet_3156)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 10Y
Category Induced pluripotent stem cell
Publications

PubMed=31734643; DOI=10.1016/j.scr.2019.101648
Park H., Han J., Lee Y., Kwak S., Koo S.K.
Generation of human induced pluripotent stem cells from peripheral blood mononuclear cells of a Senior-Loken syndrome patient.
Stem Cell Res. 41:101648-101648(2019)

PubMed=33714852; DOI=10.1016/j.scr.2021.102270
Kim J.-H., Jo H.-Y., Ha H.-Y., Kim Y.-O.
Korea National Stem Cell Bank.
Stem Cell Res. 53:102270-102270(2021)

Cross-references
Cell line databases/resources hPSCreg; KSCBi010-A
SKIP; SKIP005591
Biological sample resources BioSamples; SAMEA5892403
Encyclopedic resources Wikidata; Q95980264
Gene expression databases GEO; GSM4972453
Entry history
Entry creation05-Jul-2019
Last entry update29-Jun-2023
Version number8