ID   FTD2E1
AC   CVCL_RH62
SY   FTLD-Tau1
DR   SKIP; SKIP001265
DR   Wikidata; Q54835220
RX   PubMed=27721502;
CC   Sequence variation: Mutation; HGNC; HGNC:6893; MAPT; Simple; c.1920+14C>T (c.2091+14C>T) (c.1866+14C>T) (c.915+14C>T) (c.828+14C>T) (IVS10+14C>T); ClinVar=VCV000014248; Zygosity=Unspecified (PubMed=27721502).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84719; Frontotemporal dementia
DI   ORDO; Orphanet_275864; Behavioral variant of frontotemporal dementia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   52Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 19-12-24; Version: 8
//
RX   PubMed=27721502; DOI=10.1038/srep34904; PMCID=PMC5056519;
RA   Imamura K., Sahara N., Kanaan N.M., Tsukita K., Kondo T., Kutoku Y.,
RA   Ohsawa Y., Sunada Y., Kawakami K., Hotta A., Yawata S., Watanabe D.,
RA   Hasegawa M., Trojanowski J.Q., Lee V.M.-Y., Suhara T., Higuchi M.,
RA   Inoue H.;
RT   "Calcium dysregulation contributes to neurodegeneration in FTLD
RT   patient iPSC-derived neurons.";
RL   Sci. Rep. 6:34904-34904(2016).
//