ID   NH50212
AC   CVCL_YP88
DR   NHCDR; NH50212
DR   Wikidata; Q98127659
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:4010; FUS; Simple; p.Arg521Gly (c.1561C>G); ClinVar=VCV000016222; Zygosity=Heterozygous (NHCDR=NH50212).
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)
HI   CVCL_EZ53 ! ND40077
SX   Female
AG   47Y
CA   Induced pluripotent stem cell
DT   Created: 12-03-20; Last updated: 19-12-24; Version: 9
//