Cellosaurus cell line ND40019 (CVCL

Cross-references
Cell line name	ND40019
Synonyms	ND40019*C
Accession	CVCL_Y830
Resource Identification Initiative	To cite this cell line use: ND40019 (RRID:CVCL_Y830)
Comments	Donor information: At sampling donor was not affected with Parkinson disease but at risk for disease. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:18618; LRRK2; Simple; p.Gly2019Ser (c.6055G>A); ClinVar=VCV000001940; Zygosity=Heterozygous (NHCDR=ND40019).
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)
Originate from same individual	CVCL_Y831 ! ND40020
Sex of cell	Male
Age at sampling	Age unspecified
Category	Induced pluripotent stem cell
Publications	PubMed=26651604; DOI=10.1016/j.stemcr.2015.11.004; PMCID=PMC4682343 Schwab A.J., Ebert A.D. Neurite aggregation and calcium dysfunction in iPSC-derived sensory neurons with Parkinson's disease-related LRRK2 G2019S mutation. Stem Cell Reports 5:1039-1052(2015)
Cell line collections (Providers)	Coriell; ND40019 - Discontinued NHCDR; ND40019
Cell line databases/resources	SKIP; SKIP001373 SKIP; SKIP004718
Encyclopedic resources	Wikidata; Q54930140
Entry history
Entry creation	10-Apr-2015
Last entry update	19-Dec-2024
Version number	17