ID   NH50165
AC   CVCL_UX19
DR   NHCDR; NH50165
DR   Wikidata; Q98127593
CC   Sequence variation: Mutation; HGNC; HGNC:6893; MAPT; Simple; p.Gly389Arg (c.1165G>A) (G706R, c.2116G>A); ClinVar=VCV000014255; Zygosity=Unspecified (NHCDR=NH50165).
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_UX17 ! NH50110
OI   CVCL_UX18 ! NH50111
SX   Female
AG   60-69Y
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 19-12-24; Version: 10
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