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Cellosaurus KIOMi002-A (CVCL_YM74)

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Cell line name KIOMi002-A
Synonyms SK-C-LRRK2-iPSC
Accession CVCL_YM74
Resource Identification Initiative To cite this cell line use: KIOMi002-A (RRID:CVCL_YM74)
Comments From: Korea Institute of Oriental Medicine; Daejeon; South Korea.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:18618; LRRK2; Simple_corrected; p.Gly2019Ser (c.6055G>A); ClinVar=VCV000001940; Zygosity=Heterozygous; Note=By homologous recombination (PubMed=31731184).
Disease Parkinson disease 8, autosomal dominant (NCIt: C198605)
Young-onset Parkinson disease (ORDO: Orphanet_2828)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 34Y
Category Induced pluripotent stem cell
Publications

PubMed=31731184; DOI=10.1016/j.scr.2019.101649
Seo-Young Lee, Sun-Ku Chung;
Generation of gene-corrected iPSC line, KIOMi002-A, from Parkinson's disease patient iPSC with LRRK2 G2019S mutation using BAC-based homologous recombination.
Stem Cell Res. 41:101649-101649(2019)

Cross-references
Cell line databases/resources SKIP; SKIP005587
Encyclopedic resources Wikidata; Q94339578
Entry history
Entry creation12-Mar-2020
Last entry update19-Dec-2024
Version number9