ID   FTDP-17-1-I
AC   CVCL_A9R2
DR   Wikidata; Q102113858
RX   PubMed=26143746;
CC   Population: Caucasian.
CC   Sequence variation: 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).
CC   Donor information: At sampling donor was not affected with frontotemporal dementia but at risk for disease.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84719; Frontotemporal dementia
DI   NCIt; C26845; Parkinson's disease
DI   ORDO; Orphanet_275864; Behavioral variant of frontotemporal dementia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_EY37 ! ND32945
SX   Male
AG   43Y
CA   Induced pluripotent stem cell
DT   Created: 29-10-20; Last updated: 19-12-24; Version: 8
//
RX   PubMed=26143746; DOI=10.1016/j.stemcr.2015.06.001; PMCID=PMC4618448;
RA   Ehrlich M., Hallmann A.-L., Reinhardt P., Arauzo-Bravo M.J., Korr S.,
RA   Ropke A., Psathaki O.E., Ehling P., Meuth S.G., Oblak A.L.,
RA   Murrell J.R., Ghetti B., Zaehres H., Scholer H.R., Sterneckert J.,
RA   Kuhlmann T., Hargus G.;
RT   "Distinct neurodegenerative changes in an induced pluripotent stem
RT   cell model of frontotemporal dementia linked to mutant Tau protein.";
RL   Stem Cell Reports 5:83-96(2015).
//