ID   ND40074
AC   CVCL_EZ50
DR   Coriell; ND40074
DR   NHCDR; ND40074
DR   Wikidata; Q54930155
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:6893; MAPT; Simple; p.Asn279Lys (c.837T>G) (N596K, c.1788T>G or N614K, c.1842T>G); ClinVar=VCV000014253; Zygosity=Unspecified (NHCDR=ND40074).
CC   Discontinued: Coriell; ND40074; true.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C26845; Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   48Y
CA   Finite cell line
DT   Created: 26-09-16; Last updated: 10-04-25; Version: 13
//