Cellosaurus logo
expasy logo

Cellosaurus FTDP-17-1-II (CVCL_A9R3)

[Text version]
Cell line name FTDP-17-1-II
Accession CVCL_A9R3
Resource Identification Initiative To cite this cell line use: FTDP-17-1-II (RRID:CVCL_A9R3)
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=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_EY37 (ND32945)
Sex of cell Male
Age at sampling 43Y
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; Q102113859
Entry history
Entry creation29-Oct-2020
Last entry update14-Aug-2025
Version number10