Cellosaurus cell line ND40018 (CVCL

Cellosaurus ND40018 (CVCL_Y829)

Cross-references
Cell line name	ND40018
Synonyms	ND40018*C
Accession	CVCL_Y829
Resource Identification Initiative	To cite this cell line use: ND40018 (RRID:CVCL_Y829)
Comments	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=Homozygous (Coriell=ND40018).
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	Female
Age at sampling	60Y
Category	Induced pluripotent stem cell
Publications	PubMed=26651604; DOI=10.1016/j.stemcr.2015.11.004; PMCID=PMC4682343 Andrew J. Schwab, Allison D. Ebert; 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) PubMed=27264186; DOI=10.1016/j.celrep.2016.05.022 Lin Lin, Jonathan Goke, Engin Cukuroglu, Mark R. Dranias, Antonius M.J. VanDongen, Lawrence Walter Stanton; Molecular features underlying neurodegeneration identified through in vitro modeling of genetically diverse Parkinson's disease patients. Cell Rep. 15:2411-2426(2016)
Cell line collections (Providers)	Coriell; ND40018 - Discontinued NHCDR; ND40018
Cell line databases/resources	SKIP; SKIP001372 SKIP; SKIP004717
Encyclopedic resources	Wikidata; Q54930139
Entry history
Entry creation	10-Apr-2015
Last entry update	19-Dec-2024
Version number	18