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Cellosaurus ND11265 (CVCL_DE92)

[Text version]
Cell line name ND11265
Accession CVCL_DE92
Resource Identification Initiative To cite this cell line use: ND11265 (RRID:CVCL_DE92)
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; Unexplicit; IVS20+4delGTAA; Zygosity=Heterozygous; Note=Splicing mutation (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 54Y
Category Transformed cell line
Publications

PubMed=17622782; DOI=10.1159/000105160
Janel O. Johnson, Coro Paisan-Ruiz, Grisel Lopez, Cynthia Crews, Angela Britton, Roniel Malkani, E. Whitney Evans, Aideen McInerney-Leo, Shushant Jain, Robert L. Nussbaum, Kelly Douglas Foote ...Show all 18 authors... , Ronald J. Mandel, Anthony Crawley, Sharon Reimsnider, Hubert H. Fernandez, Michael S. Okun, Katrina Ann Gwinn-Hardy, Andrew B. Singleton; Show fewer authors
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; ND11265
Cell line databases/resources CLO; CLO_0018503
Encyclopedic resources Wikidata; Q54923942
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number11