ID   ND50047
AC   CVCL_RH41
DR   NHCDR; ND50047
DR   SKIP; SKIP001654
DR   Wikidata; Q54930269
CC   Population: Caucasian; Polish.
CC   Sequence variation: Mutation; HGNC; HGNC:6893; MAPT; Simple; p.Pro301Leu (c.902C>T) (P618L, c.1853C>T or P636L, c.1907C>T); ClinVar=VCV000014245; Zygosity=Unspecified (from parent cell line).
CC   Donor information: At sampling donor was not affected with frontotemporal dementia but at risk for disease.
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)
HI   CVCL_EY84 ! ND32955
SX   Male
AG   50Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 19-12-24; Version: 12
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