ID   ND29563
AC   CVCL_Y894
DR   Coriell; ND29563
DR   NHCDR; ND29563
DR   Wikidata; Q54929256
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:4010; FUS; Simple; p.Arg522Arg (c.1566G>A); ClinVar=VCV000540280; Zygosity=Unspecified; Note=Mislocalized protein (NHCDR=ND29563).
CC   Discontinued: Coriell; ND29563; true.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C168750; Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia
DI   ORDO; Orphanet_803; Amyotrophic lateral sclerosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   37Y
CA   Finite cell line
DT   Created: 10-04-15; Last updated: 19-12-24; Version: 15
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