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Cellosaurus ND29149 (CVCL_T849)

[Text version]
Cell line name ND29149
Accession CVCL_T849
Resource Identification Initiative To cite this cell line use: ND29149 (RRID:CVCL_T849)
Comments Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 11179; SOD1; Simple; p.Asp91Ala (c.272A>C) (D90A); ClinVar=VCV000014766; Zygosity=Unspecified (PubMed=22952635).
Disease Amyotrophic lateral sclerosis 1 (NCIt: C168749)
Amyotrophic lateral sclerosis (ORDO: Orphanet_803)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_T850 (ND35660)CVCL_Y823 (ND39030)CVCL_UA49 (WC034i-SOD1-D90A)
Sex of cell Female
Age at sampling 50Y
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)

Cross-references
Cell line collections (Providers) Coriell; ND29149 - Discontinued
NHCDR; ND29149
Encyclopedic resources Wikidata; Q54929204
Entry history
Entry creation03-Feb-2014
Last entry update29-Jun-2023
Version number18