ID   19L4
AC   CVCL_RX91
DR   SKIP; SKIP001355
DR   Wikidata; Q54582639
RX   PubMed=27594586;
CC   Sequence variation: Mutation; HGNC; HGNC:6893; MAPT; Simple; p.Ala469Thr (c.1405G>A) (p.Ala152Thr, c.454G>A); ClinVar=VCV000323645; 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_RX90 ! 19L3
SX   Male
AG   68Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 19-12-24; Version: 9
//
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).
//