Cellosaurus cell line ND29370 (CVCL

Cellosaurus ND29370 (CVCL_EY49)

Cross-references
Cell line name	ND29370
Accession	CVCL_EY49
Resource Identification Initiative	To cite this cell line use: ND29370 (RRID:CVCL_EY49)
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=Heterozygous (PubMed=22952635).
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	56Y
Category	Finite cell line
Publications	PubMed=22952635; DOI=10.1371/journal.pone.0043099; PMCID=PMC3428297 Wray S., Self M., Lewis P.A., Taanman J.-W., Ryan N.S., Mahoney C.J., Liang Y.-Y., Devine M.J., Sheerin U.-M., Houlden H., Morris H.R., Healy D., Marti-Masso J.-F., Preza E., Barker S., Sutherland M., Corriveau R.A., D'Andrea M., Schapira A.H.V., Uitti R.J., Guttman M., Opala G., Jasinska-Myga B., Puschmann A., Nilsson C., Espay A.J., Slawek J., Gutmann L., Boeve B.F., Boylan K., Stoessl A.J., Ross O.A., Maragakis N.J., Van Gerpen J.A., Gerstenhaber M., Gwinn-Hardy K.A., Dawson T.M., Isacson O., Marder K.S., Clark L.N., Przedborski S.E., Finkbeiner S., Rothstein J.D., Wszolek Z.K., Rossor M.N., Hardy J. NINDS ALS iPSC Consortium NINDS Huntington's Disease iPSC Consortium NINDS Parkinson's Disease iPSC Consortium Creation of an open-access, mutation-defined fibroblast resource for neurological disease research. PLoS ONE 7:E43099-E43099(2012)
Cell line collections (Providers)	Coriell; ND29370 - Discontinued NHCDR; ND29370
Biological sample resources	BioSample; SAMN00805447
Encyclopedic resources	Wikidata; Q54929217
Entry history
Entry creation	26-Sep-2016
Last entry update	19-Dec-2024
Version number	13