ID   3L9
AC   CVCL_RX93
DR   SKIP; SKIP001231
DR   Wikidata; Q54585543
RX   PubMed=27594586;
CC   Sequence variation: Mutation; HGNC; HGNC:6893; MAPT; Simple; c.1920+16C>T (c.2091+16C>T) (c.1866+16C>T) (c.915+16C>T) (c.828+16C>T) (IVS10+16C>T); ClinVar=VCV000098222; Zygosity=Unspecified (PubMed=27594586).
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   ORDO; Orphanet_275864; Behavioral variant of frontotemporal dementia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_RX92 ! 3L6
SX   Male
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 19-12-24; Version: 10
//
RX   PubMed=27594586; DOI=10.1016/j.stemcr.2016.08.006; PMCID=PMC5032669;
RA   Biswas M.H.U., Almeida S., Lopez-Gonzalez R., Mao W.-J., Zhang Z.-J.,
RA   Karydas A.M., Geschwind M.D., Biernat J., Mandelkow E.-M., Futai K.,
RA   Miller B.L., Gao F.-B.;
RT   "MMP-9 and MMP-2 contribute to neuronal cell death in iPSC models of
RT   frontotemporal dementia with MAPT mutations.";
RL   Stem Cell Reports 7:316-324(2016).
//