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Cellosaurus ND12648 (CVCL_CM22)

[Text version]
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; 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)

Cross-references
Cell line collections (Providers) Coriell; ND12648
Cell line databases/resources CLO; CLO_0031671
Encyclopedic resources Wikidata; Q54925170
Entry history
Entry creation13-Jul-2016
Last entry update29-Jun-2023
Version number11