Cellosaurus cell line ND30047 (CVCL

Cellosaurus ND30047 (CVCL_EY61)

Cross-references
Cell line name	ND30047
Accession	CVCL_EY61
Resource Identification Initiative	To cite this cell line use: ND30047 (RRID:CVCL_EY61)
Comments	Donor information: At sampling donor was not affected with Huntington's disease but at risk for disease (HTT has CAG repeat length greater than or equal to 36). Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:4851; HTT; Repeat_expansion; p.Gln18[41] (c.52CAG(41)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (PubMed=22952635).
Disease	Huntington's disease (NCIt: C82342) Huntington disease (ORDO: Orphanet_399)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	23Y
Category	Finite cell line
Publications	PubMed=22952635; DOI=10.1371/journal.pone.0043099; PMCID=PMC3428297 Selina Wray, Matthew Self, Patrick A. Lewis, Jan-Willem Taanman, Natalie S. Ryan, Colin J. Mahoney, Yu-Ying Liang, Michael J. Devine, Una-Marie Sheerin, Henry Houlden, Huw R. Morris ...Show all 46 authors... , Daniel Healy, Jose-Felix Marti-Masso, Elisavet Preza, Suzanne Barker, Margaret Sutherland, Roderick A. Corriveau, Michael D'Andrea, Anthony Henry Vernon Schapira, Ryan J. Uitti, Mark Guttman, Grzegorz Opala, Barbara Jasinska-Myga, Andreas Puschmann, Christer Nilsson, Alberto J. Espay, Jaroslaw Slawek, Ludwig Gutmann, Bradley F. Boeve, Kevin Boylan, Alexander Jon Stoessl, Owen A. Ross, Nicholas John Maragakis, Jay Arthur Van Gerpen, Melissa Gerstenhaber, Katrina Ann Gwinn-Hardy, Ted Murray Dawson, Ole Isacson, Karen S. Marder, Lorraine N. Clark, Serge E. Przedborski, Steven Finkbeiner, Jeffrey D. Rothstein, Zbigniew Kudzin Wszolek, Martin Neil Rossor, John Hardy; Show fewer authors 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:e43099.1-e43099.8(2012)
Cell line collections (Providers)	Coriell; ND30047 - Discontinued NHCDR; ND30047
Encyclopedic resources	Wikidata; Q54929315
Entry history
Entry creation	26-Sep-2016
Last entry update	19-Dec-2024
Version number	14