ID   IBMS-iPSC-042-01
AC   CVCL_UK19
SY   IBMSi011-A
DR   BCRC; SC81107
DR   BioSamples; SAMEA5728487
DR   hPSCreg; IBMSi011-A
DR   SKIP; SKIP005540
DR   SKIP; SKIP005711
DR   Wikidata; Q94313048
RX   PubMed=31029016;
CC   From: Institute of Biomedical Sciences, Academia Sinica; Taipei; Taiwan.
CC   Population: Chinese; Taiwan.
CC   Sequence variation: Mutation; HGNC; HGNC:18618; LRRK2; Simple; p.Ile1371Val (c.4111A>G); ClinVar=VCV000039176; Zygosity=Heterozygous (PubMed=31029016).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): PubMed=31029016
ST   Amelogenin: X
ST   CSF1PO: 11,12
ST   D13S317: 10,12
ST   D16S539: 9,11
ST   D18S51: 13,16
ST   D19S433: 13,14
ST   D21S11: 31.2,32
ST   D2S1338: 22,24
ST   D3S1358: 15
ST   D5S818: 11,13
ST   D7S820: 8,11
ST   D8S1179: 14,15
ST   FGA: 23
ST   TH01: 6,7
ST   TPOX: 8,11
ST   vWA: 14,17
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   Female
AG   59Y
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 19-12-24; Version: 11
//
RX   PubMed=31029016; DOI=10.1016/j.scr.2019.101447;
RA   Lin H.-I., Cheng Y.-C., Ko H.-W., Wen C.-H., Lu H.-E., Huang C.-Y.,
RA   Hsieh P.C.-H., Lin C.-H.;
RT   "Generation of induced pluripotent stem cells (IBMSi011-A) from a
RT   patient with Parkinson's disease carrying LRRK2 p.I1371V mutation.";
RL   Stem Cell Res. 37:101447-101447(2019).
//