ID   KIOMi002-A
AC   CVCL_YM74
SY   SK-C-LRRK2-iPSC
DR   SKIP; SKIP005587
DR   Wikidata; Q94339578
RX   PubMed=31731184;
CC   From: Korea Institute of Oriental Medicine; Daejeon; South Korea.
CC   Sequence variation: Mutation; HGNC; HGNC:18618; LRRK2; Simple_corrected; p.Gly2019Ser (c.6055G>A); ClinVar=VCV000001940; Zygosity=Heterozygous; Note=By homologous recombination (PubMed=31731184).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C198605; Parkinson disease 8, autosomal dominant
DI   ORDO; Orphanet_2828; Young-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   34Y
CA   Induced pluripotent stem cell
DT   Created: 12-03-20; Last updated: 19-12-24; Version: 9
//
RX   PubMed=31731184; DOI=10.1016/j.scr.2019.101649;
RA   Lee S.-Y., Chung S.-K.;
RT   "Generation of gene-corrected iPSC line, KIOMi002-A, from Parkinson's
RT   disease patient iPSC with LRRK2 G2019S mutation using BAC-based
RT   homologous recombination.";
RL   Stem Cell Res. 41:101649-101649(2019).
//