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Cellosaurus FTDP-17-1-I (CVCL_A9R2)

[Text version]
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 (NCIt: C84719)
Parkinson disease (NCIt: C26845)
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
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
Encyclopedic resources Wikidata; Q102113858
Entry history
Entry creation29-Oct-2020
Last entry update10-Apr-2025
Version number9