ID   FTDP-17-2-II
AC   CVCL_A9R5
DR   Wikidata; Q102113861
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.
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: 19-12-24; Version: 7
//
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).
//