ID   ND41001
AC   CVCL_EZ63
DR   NHCDR; ND41001
DR   Wikidata; Q54930184
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:9508; PSEN1; Simple; c.338+1delG (p.Leu113_Ile114insThr) (int4del); ClinVar=VCV000098013; Zygosity=Unspecified (NHCDR=ND41001).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C123412; Alzheimer's disease 3
DI   ORDO; Orphanet_1020; Early-onset autosomal dominant Alzheimer disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   47Y
CA   Finite cell line
DT   Created: 26-09-16; Last updated: 19-12-24; Version: 11
//