Cellosaurus cell line ND31846 (CVCL

Cellosaurus ND31846 (CVCL_EY76)

Cross-references
Cell line name	ND31846
Accession	CVCL_EY76
Resource Identification Initiative	To cite this cell line use: ND31846 (RRID:CVCL_EY76)
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[40] (c.52CAG(40)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (PubMed=22952635).
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	71Y
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; ND31846 - Discontinued NHCDR; ND31846
Encyclopedic resources	Wikidata; Q54929518
Entry history
Entry creation	26-Sep-2016
Last entry update	19-Dec-2024
Version number	13