ID   ND40077
AC   CVCL_EZ53
DR   Coriell; ND40077
DR   NHCDR; ND40077
DR   Wikidata; Q54930158
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:4010; FUS; Simple; p.Arg521Gly (c.1561C>G); ClinVar=VCV000016222; Zygosity=Heterozygous (NHCDR=ND40077).
CC   Discontinued: Coriell; ND40077; 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   Female
AG   47Y
CA   Finite cell line
DT   Created: 26-09-16; Last updated: 19-12-24; Version: 12
//