Cellosaurus cell line FTDP-17-1-I (CVCL

Cellosaurus FTDP-17-1-I (CVCL_A9R2)

Cross-references
Cell line name	FTDP-17-1-I
Accession	CVCL_A9R2
Resource Identification Initiative	To cite this cell line use: FTDP-17-1-I (RRID:CVCL_A9R2)
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)
Encyclopedic resources	Wikidata; Q102113858
Entry history
Entry creation	29-Oct-2020
Last entry update	14-Aug-2025
Version number	10