Cellosaurus cell line ND12648 (CVCL

Cross-references
Cell line name	ND12648
Accession	CVCL_CM22
Resource Identification Initiative	To cite this cell line use: ND12648 (RRID:CVCL_CM22)
Comments	Population: Caucasian. Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV). Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:18618; LRRK2; Simple; p.Thr2356Ile (c.7067C>T); ClinVar=VCV000039232; Zygosity=Heterozygous (PubMed=17622782).
Disease	Parkinson disease 8, autosomal dominant (NCIt: C198605) Hereditary late-onset Parkinson disease (ORDO: Orphanet_411602)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	68Y
Category	Transformed cell line
Publications	PubMed=17622782; DOI=10.1159/000105160 Johnson J.O., Paisan-Ruiz C., Lopez G., Crews C., Britton A., Malkani R., Evans E.W., McInerney-Leo A., Jain S., Nussbaum R.L., Foote K.D., Mandel R.J., Crawley A., Reimsnider S., Fernandez H.H., Okun M.S., Gwinn-Hardy K.A., Singleton A.B. Comprehensive screening of a North American Parkinson's disease cohort for LRRK2 mutation. Neurodegener. Dis. 4:386-391(2007)
Cell line collections (Providers)	Coriell; ND12648
Cell line databases/resources	CLO; CLO_0031671
Encyclopedic resources	Wikidata; Q54925170
Entry history
Entry creation	13-Jul-2016
Last entry update	19-Dec-2024
Version number	12