ID   PD-BP44-iPSC
AC   CVCL_JL88
DR   Wikidata; Q54946771
RX   PubMed=28395805;
CC   From: National Neuroscience Institute; Singapore; Singapore.
CC   Sequence variation: Mutation; HGNC; HGNC:18618; LRRK2; Simple; p.Ser1647Thr (c.4939T>A); ClinVar=VCV000039201; Zygosity=Heterozygous (PubMed=28395805).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
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   64Y
CA   Induced pluripotent stem cell
DT   Created: 15-05-17; Last updated: 19-12-24; Version: 11
//
RX   PubMed=28395805; DOI=10.1016/j.scr.2016.12.010;
RA   Ma D.-R., Ng S.H., Zeng L., Zhao Y., Tan E.K.;
RT   "Generation of a human induced pluripotent stem cell (iPSC) line
RT   carrying the Parkinson's disease linked LRRK2 variant S1647T.";
RL   Stem Cell Res. 18:54-56(2017).
//