Cellosaurus cell line ND30967 (CVCL

Cellosaurus ND30967 (CVCL_EY69)

Cross-references
Cell line name	ND30967
Accession	CVCL_EY69
Resource Identification Initiative	To cite this cell line use: ND30967 (RRID:CVCL_EY69)
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[43] (c.52CAG(43)) (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	Male
Age at sampling	Age unspecified
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; ND30967 - Discontinued NHCDR; ND30967
Encyclopedic resources	Wikidata; Q54929446
Entry history
Entry creation	26-Sep-2016
Last entry update	19-Dec-2024
Version number	14