ID   IBMS-iPSC-019-11
AC   CVCL_QY06
SY   IBMSi006-A
DR   BCRC; SC81048
DR   BCRC; SC81049
DR   hPSCreg; IBMSi006-A
DR   SKIP; SKIP005636
DR   SKIP; SKIP005635
DR   Wikidata; Q54897194
RX   PubMed=29127874;
CC   From: Institute of Biomedical Sciences, Academia Sinica; Taipei; Taiwan.
CC   Population: Chinese; Taiwan.
CC   Sequence variation: Mutation; HGNC; 18618; LRRK2; Simple; p.Ile2012Thr (c.6035T>C); ClinVar=VCV000039218; Zygosity=Heterozygous (PubMed=29127874).
CC   Derived from sampling site: Peripheral blood.
ST   Source(s): PubMed=29127874
ST   Amelogenin: X
ST   CSF1PO: 12
ST   D13S317: 8,13
ST   D16S539: 9,13
ST   D18S51: 16,17
ST   D19S433: 13,14.2
ST   D21S11: 30,32.2
ST   D2S1338: 19,24
ST   D3S1358: 16,18
ST   D5S818: 11
ST   D7S820: 11
ST   D8S1179: 16
ST   FGA: 23
ST   TH01: 7,9
ST   TPOX: 8,11
ST   vWA: 14,15
DI   NCIt; C26845; Parkinson's disease
DI   ORDO; Orphanet_411602; Hereditary late-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens
SX   Female
AG   67Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 20-05-21; Version: 6
//
RX   PubMed=29127874; DOI=10.1016/j.scr.2017.10.020;
RA   Lin C.-H., Cheng Y.-C., Lin H.-I., Ho M.-C., Hsu Y.-H., Wen C.-H.,
RA   Ko H.-W., Lu H.-E., Huang C.-Y., Hsieh P.C.-H.;
RT   "Generation of induced pluripotent stem cells from a patient with
RT   Parkinson's disease carrying LRRK2 p.I2012T mutation.";
RL   Stem Cell Res. 25:123-127(2017).
//