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Cellosaurus ND32955 (CVCL_EY84)

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Cell line name ND32955
Accession CVCL_EY84
Resource Identification Initiative To cite this cell line use: ND32955 (RRID:CVCL_EY84)
Comments Population: Caucasian; Polish.
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.Pro301Leu (c.902C>T) (P618L, c.1853C>T or P636L, c.1907C>T); ClinVar=VCV000014245; Zygosity=Unspecified (PubMed=22952635).
Disease Frontotemporal dementia (NCIt: C84719)
Behavioral variant of frontotemporal dementia (ORDO: Orphanet_275864)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_RH40 (ND50046)CVCL_RH41 (ND50047)CVCL_RH42 (ND50048)
Sex of cell Male
Age at sampling 50Y
Category Finite cell line
Publications

PubMed=22952635; DOI=10.1371/journal.pone.0043099; PMCID=PMC3428297
Selina Wray, Matthew Self, Patrick A. Lewis, Jan-Willem Taanman, Natalie S. Ryan, Colin J. Mahoney, Yu-Ying Liang, Michael J. Devine, Una-Marie Sheerin, Henry Houlden, Huw R. Morris ...Show all 46 authors... , Daniel Healy, Jose-Felix Marti-Masso, Elisavet Preza, Suzanne Barker, Margaret Sutherland, Roderick A. Corriveau, Michael D'Andrea, Anthony Henry Vernon Schapira, Ryan J. Uitti, Mark Guttman, Grzegorz Opala, Barbara Jasinska-Myga, Andreas Puschmann, Christer Nilsson, Alberto J. Espay, Jaroslaw Slawek, Ludwig Gutmann, Bradley F. Boeve, Kevin Boylan, Alexander Jon Stoessl, Owen A. Ross, Nicholas John Maragakis, Jay Arthur Van Gerpen, Melissa Gerstenhaber, Katrina Ann Gwinn-Hardy, Ted Murray Dawson, Ole Isacson, Karen S. Marder, Lorraine N. Clark, Serge E. Przedborski, Steven Finkbeiner, Jeffrey D. Rothstein, Zbigniew Kudzin Wszolek, Martin Neil Rossor, John Hardy; Show fewer authors
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:e43099.1-e43099.8(2012)

Cross-references
Cell line collections (Providers) Coriell; ND32955 - Discontinued
NHCDR; ND32955
Encyclopedic resources Wikidata; Q54929627
Entry history
Entry creation26-Sep-2016
Last entry update19-Dec-2024
Version number14