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Cellosaurus ND32945 (CVCL_EY37)

[Text version]
Cell line name ND32945
Synonyms FTDP-17-1
Accession CVCL_EY37
Resource Identification Initiative To cite this cell line use: ND32945 (RRID:CVCL_EY37)
Comments Population: Caucasian.
Donor information: At sampling donor was not affected with frontotemporal dementia but at risk for disease.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:6893; MAPT; Simple; p.Asn279Lys (c.837T>G) (N596K, c.1788T>G or N614K, c.1842T>G); ClinVar=VCV000014253; Zygosity=Unspecified (PubMed=22952635).
Disease Frontotemporal dementia (NCIt: C84719)
Parkinson's disease (NCIt: C26845)
Behavioral variant of frontotemporal dementia (ORDO: Orphanet_275864)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_A9R2 (FTDP-17-1-I)CVCL_A9R3 (FTDP-17-1-II)
Sex of cell Male
Age at sampling 43Y
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)

PubMed=26143746; DOI=10.1016/j.stemcr.2015.06.001; PMCID=PMC4618448
Ehrlich M., Hallmann A.-L., Reinhardt P., Arauzo-Bravo M.J., Korr S., Ropke A., Psathaki O.E., Ehling P., Meuth S.G., Oblak A.L., Murrell J.R., Ghetti B., Zaehres H., Scholer H.R., Sterneckert J., Kuhlmann T., Hargus G.
Distinct neurodegenerative changes in an induced pluripotent stem cell model of frontotemporal dementia linked to mutant Tau protein.
Stem Cell Reports 5:83-96(2015)

Cross-references
Cell line collections (Providers) Coriell; ND32945 - Discontinued
NHCDR; ND32945
Encyclopedic resources Wikidata; Q54929620
Entry history
Entry creation26-Sep-2016
Last entry update19-Dec-2024
Version number14