ID   FTDP-17-2-I
AC   CVCL_A9R4
DR   Wikidata; Q102113860
RX   PubMed=26143746;
CC   Sequence variation: 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).
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 disease
DI   ORDO; Orphanet_275864; Behavioral variant of frontotemporal dementia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_EY39 ! ND32951
SX   Female
CA   Induced pluripotent stem cell
DT   Created: 29-10-20; Last updated: 10-04-25; 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).
//