ID   ND12648
AC   CVCL_CM22
DR   CLO; CLO_0031671
DR   Coriell; ND12648
DR   Wikidata; Q54925170
RX   PubMed=17622782;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 18618; LRRK2; Simple; p.Thr2356Ile (c.7067C>T); ClinVar=VCV000039232; Zygosity=Heterozygous (PubMed=17622782).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
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   68Y
CA   Transformed cell line
DT   Created: 13-07-16; Last updated: 29-06-23; Version: 11
//
RX   PubMed=17622782; DOI=10.1159/000105160;
RA   Johnson J.O., Paisan-Ruiz C., Lopez G., Crews C., Britton A.,
RA   Malkani R., Evans E.W., McInerney-Leo A., Jain S., Nussbaum R.L.,
RA   Foote K.D., Mandel R.J., Crawley A., Reimsnider S., Fernandez H.H.,
RA   Okun M.S., Gwinn-Hardy K.A., Singleton A.B.;
RT   "Comprehensive screening of a North American Parkinson's disease
RT   cohort for LRRK2 mutation.";
RL   Neurodegener. Dis. 4:386-391(2007).
//