ID   ND32945
AC   CVCL_EY37
SY   FTDP-17-1
DR   Coriell; ND32945
DR   NHCDR; ND32945
DR   Wikidata; Q54929620
RX   PubMed=22952635;
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=22952635).
CC   Donor information: At sampling donor was not affected with frontotemporal dementia but at risk for disease.
CC   Discontinued: Coriell; ND32945; probable.
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)
SX   Male
AG   43Y
CA   Finite cell line
DT   Created: 26-09-16; Last updated: 19-12-24; Version: 14
//
RX   PubMed=22952635; DOI=10.1371/journal.pone.0043099; PMCID=PMC3428297;
RA   Wray S., Self M., Lewis P.A., Taanman J.-W., Ryan N.S., Mahoney C.J.,
RA   Liang Y.-Y., Devine M.J., Sheerin U.-M., Houlden H., Morris H.R.,
RA   Healy D., Marti-Masso J.-F., Preza E., Barker S., Sutherland M.,
RA   Corriveau R.A., D'Andrea M., Schapira A.H.V., Uitti R.J., Guttman M.,
RA   Opala G., Jasinska-Myga B., Puschmann A., Nilsson C., Espay A.J.,
RA   Slawek J., Gutmann L., Boeve B.F., Boylan K., Stoessl A.J., Ross O.A.,
RA   Maragakis N.J., Van Gerpen J.A., Gerstenhaber M., Gwinn-Hardy K.A.,
RA   Dawson T.M., Isacson O., Marder K.S., Clark L.N., Przedborski S.E.,
RA   Finkbeiner S., Rothstein J.D., Wszolek Z.K., Rossor M.N., Hardy J.;
RG   NINDS ALS iPSC Consortium;
RG   NINDS Huntington's Disease iPSC Consortium;
RG   NINDS Parkinson's Disease iPSC Consortium;
RT   "Creation of an open-access, mutation-defined fibroblast resource for
RT   neurological disease research.";
RL   PLoS ONE 7:E43099-E43099(2012).
//
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).
//