Cellosaurus cell line ND30626 (CVCL

Cellosaurus ND30626 (CVCL_Y896)

Cross-references
Cell line name	ND30626
Accession	CVCL_Y896
Resource Identification Initiative	To cite this cell line use: ND30626 (RRID:CVCL_Y896)
Comments	Caution: Patient indicated as not affected with HD in HQ01462, but as affected in ND30626. 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)
Originate from same individual	CVCL_3P45 ! HQ01462
Sex of cell	Male
Age at sampling	62Y
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; ND30626 - Discontinued NHCDR; ND30626
Encyclopedic resources	Wikidata; Q54929408
Entry history
Entry creation	10-Apr-2015
Last entry update	19-Dec-2024
Version number	14