ID   IBMS-iPSC-020-01
AC   CVCL_QY28
SY   IBMSi008-A
DR   BCRC; SC81050
DR   BCRC; SC81051
DR   hPSCreg; IBMSi008-A
DR   SKIP; SKIP005637
DR   SKIP; SKIP005638
DR   Wikidata; Q54897195
RX   PubMed=29414410;
CC   From: Institute of Biomedical Sciences, Academia Sinica; Taipei; Taiwan.
CC   Population: Asian.
CC   Sequence variation: Mutation; HGNC; 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: 10,13
ST   D13S317: 9
ST   D16S539: 9,10
ST   D18S51: 15
ST   D19S433: 13,15
ST   D21S11: 31.2
ST   D2S1338: 19,23
ST   D3S1358: 16
ST   D5S818: 11,12
ST   D7S820: 11,12
ST   D8S1179: 14,15
ST   FGA: 23,24
ST   TH01: 9
ST   TPOX: 8,10
ST   vWA: 14,16
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   53Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 19-12-24; Version: 10
//
RX   PubMed=29414410; DOI=10.1016/j.scr.2018.01.034;
RA   Cheng, Yu-Che
RA   Huang, Ching-Ying
RA   Ho, Ming-Ching
RA   Hsu, Yu-Hung
RA   Syu, Shih-Han
RA   Lu, Huai-En
RA   Lin, Han-I.
RA   Lin, Chin-Hsien
RA   Hsieh, Patrick Ching-Ho
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).
//