ID   NH50170
AC   CVCL_UX13
DR   NHCDR; NH50170
DR   Wikidata; Q98127602
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:6893; MAPT; Simple; p.Ser305Asn (c.914G>A) (S622N, c.1865G>A or S640N, c.1919G>A); ClinVar=VCV000014254; Zygosity=Unspecified (NHCDR=NH50170).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
CC   Cell type: Erythroblast; CL=CL_0000765.
DI   NCIt; C84719; Frontotemporal dementia
DI   ORDO; Orphanet_275864; Behavioral variant of frontotemporal dementia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_UX11 ! NH50168
OI   CVCL_UX12 ! NH50169
SX   Female
AG   40-49Y
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 19-12-24; Version: 12
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