ID   IBMS-iPSC-018-09
AC   CVCL_QY27
SY   IBMSi007-A
DR   BCRC; SC81095
DR   hPSCreg; IBMSi007-A
DR   SKIP; SKIP005726
DR   Wikidata; Q54897193
RX   PubMed=29414410;
CC   From: Institute of Biomedical Sciences, Academia Sinica; Taipei; Taiwan.
CC   Population: Asian.
CC   Sequence variation: Mutation; HGNC; 18618; LRRK2; Simple; p.Gly2385Arg (c.7153G>A); ClinVar=VCV000001943; Zygosity=Heterozygous (PubMed=29414410).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): PubMed=29414410
ST   Amelogenin: X,Y
ST   CSF1PO: 10,12
ST   D13S317: 11,12
ST   D16S539: 9,13
ST   D18S51: 14
ST   D19S433: 14.2,15.2
ST   D21S11: 30,32.2
ST   D2S1338: 17,23
ST   D3S1358: 15,16
ST   D5S818: 13
ST   D7S820: 8,11
ST   D8S1179: 13,16
ST   FGA: 19,23.2
ST   TH01: 9
ST   TPOX: 8,9
ST   vWA: 16
DI   NCIt; C198605; Parkinson disease 8, autosomal dominant
DI   ORDO; Orphanet_411602; Hereditary late-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   44Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 29-06-23; Version: 10
//
RX   PubMed=29414410; DOI=10.1016/j.scr.2018.01.034;
RA   Cheng Y.-C., Huang C.-Y., Ho M.-C., Hsu Y.-H., Syu S.-H., Lu H.-E.,
RA   Lin H.-I., Lin C.-H., Hsieh P.C.-H.;
RT   "Generation of 2 induced pluripotent stem cell lines derived from
RT   patients with Parkinson's disease carrying LRRK2 G2385R variant.";
RL   Stem Cell Res. 28:1-5(2018).
//