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Cellosaurus FTDP-17-2-I (CVCL_A9R4)

[Text version]
Cell line name FTDP-17-2-I
Accession CVCL_A9R4
Resource Identification Initiative To cite this cell line use: FTDP-17-2-I (RRID:CVCL_A9R4)
Comments 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.Val337Met (c.1009G>A) (V654M, c.1960G>A or V672M, c.2014G>A); ClinVar=VCV000014252; Zygosity=Unspecified (PubMed=26143746).
Disease Frontotemporal dementia-1 (NCIt: C217087)
Behavioral variant of frontotemporal dementia (ORDO: Orphanet_275864)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_EY39 (ND32951)
Sex of cell Female
Category Induced pluripotent stem cell
Publications

PubMed=26143746; DOI=10.1016/j.stemcr.2015.06.001; PMCID=PMC4618448
Marc Ehrlich, Anna-Lena Hallmann, Peter Reinhardt, Marcos J. Arauzo-Bravo, Sabrina Korr, Albrecht Ropke, Olympia Ekaterini Psathaki, Petra Ehling, Sven Gunther Meuth, Adrian L. Oblak, Jill R. Murrell ...Show all 17 authors... , Bernardino Ghetti, Holm Zaehres, Hans Robert Scholer, Jared Sterneckert, Tanja Kuhlmann, Gunnar Hargus; Show fewer authors
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
Encyclopedic resources Wikidata; Q102113860
Entry history
Entry creation29-Oct-2020
Last entry update14-Aug-2025
Version number9