ID   NH50167
AC   CVCL_UX16
DR   NHCDR; NH50167
DR   Wikidata; Q98127596
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:6893; MAPT; Simple; p.Ser305Ile (c.914G>T) (S622I, c.1865G>T or S640I, c.1919G>T); ClinVar=VCV001256161; Zygosity=Unspecified (NHCDR=NH50167).
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_UX14 ! NH50115
OI   CVCL_UX15 ! NH50166
SX   Female
AG   40-49Y
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 19-12-24; Version: 11
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