ID   FTD2E1 corrected 36-20
AC   CVCL_RH63
SY   FTLD-Tau1 corrected
DR   SKIP; SKIP001266
DR   Wikidata; Q54835221
RX   PubMed=27721502;
CC   Sequence variation: Mutation; HGNC; HGNC:6893; MAPT; Simple_corrected; 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; Note=By CRISPR/Cas9 (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)
HI   CVCL_RH62 ! FTD2E1
SX   Female
AG   52Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 19-12-24; Version: 9
//
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).
//