ID   ND32951
AC   CVCL_EY39
SY   FTDP-17-2
DR   Coriell; ND32951
DR   Wikidata; Q54929624
RX   PubMed=22952635;
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=22952635).
CC   Discontinued: Coriell; ND32951; probable.
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)
SX   Female
CA   Finite cell line
DT   Created: 26-09-16; Last updated: 19-12-24; Version: 10
//
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).
//