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Cellosaurus ND31009 (CVCL_2Y35)

[Text version]
Cell line name ND31009
Accession CVCL_2Y35
Resource Identification Initiative To cite this cell line use: ND31009 (RRID:CVCL_2Y35)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 4851; HTT; Repeat_expansion; p.Gln18[40-49] (c.52CAG(40-49)) (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_3Z57 ! HQ02585
Sex of cell Male
Age at sampling 87Y
Category Finite cell line
Publications

PubMed=22952635; DOI=10.1371/journal.pone.0043099
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.
Creation of an open-access, mutation-defined fibroblast resource for neurological disease research.
PLoS ONE 7:E43099-E43099(2012)

Cross-references
Cell line collections (Providers) Coriell; ND31009 - Discontinued
NHCDR; ND31009
Encyclopedic resources Wikidata; Q54929450
Entry history
Entry creation22-Sep-2015
Last entry update29-Jun-2023
Version number11