ID   ND40071E11
AC   CVCL_RH64
SY   FTLD-Tau2
DR   SKIP; SKIP001267
DR   Wikidata; Q54930153
RX   PubMed=27721502;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:6893; MAPT; Simple; p.Arg406Trp (c.1216C>T); ClinVar=VCV000014247; Zygosity=Unspecified (PubMed=27721502).
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 disease
DI   ORDO; Orphanet_275864; Behavioral variant of frontotemporal dementia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_EZ48 ! ND40071
SX   Male
AG   67Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 10-04-25; Version: 10
//
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).
//