• 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).
  

PubMed=22952635; DOI=10.1371/journal.pone.0043099; PMCID=PMC3428297
Wray S., Self M., Lewis P.A., Taanman J.-W., Ryan N.S., Mahoney C.J., Liang Y.-Y., Devine M.J., Sheerin U.-M., Houlden H., Morris H.R., Healy D., Marti-Masso J.-F., Preza E., Barker S., Sutherland M., Corriveau R.A., D'Andrea M., Schapira A.H.V., Uitti R.J., Guttman M., Opala G., Jasinska-Myga B., Puschmann A., Nilsson C., Espay A.J., Slawek J., Gutmann L., Boeve B.F., Boylan K., Stoessl A.J., Ross O.A., Maragakis N.J., Van Gerpen J.A., Gerstenhaber M., Gwinn-Hardy K.A., Dawson T.M., Isacson O., Marder K.S., Clark L.N., Przedborski S.E., Finkbeiner S., Rothstein J.D., Wszolek Z.K., Rossor M.N., Hardy J.
NINDS ALS iPSC Consortium
NINDS Huntington's Disease iPSC Consortium
NINDS Parkinson's Disease iPSC Consortium
Creation of an open-access, mutation-defined fibroblast resource for neurological disease research.
PLoS ONE 7:e43099.1-e43099.8(2012)

PubMed=26143746; DOI=10.1016/j.stemcr.2015.06.001; PMCID=PMC4618448
Ehrlich M., Hallmann A.-L., Reinhardt P., Arauzo-Bravo M.J., Korr S., Ropke A., Psathaki O.E., Ehling P., Meuth S.G., Oblak A.L., Murrell J.R., Ghetti B., Zaehres H., Scholer H.R., Sterneckert J., Kuhlmann T., Hargus G.
Distinct neurodegenerative changes in an induced pluripotent stem cell model of frontotemporal dementia linked to mutant Tau protein.
Stem Cell Reports 5:83-96(2015)