ID   ND41004
AC   CVCL_EZ65
DR   NHCDR; ND41004
DR   Wikidata; Q54930186
CC   Sequence variation: Mutation; HGNC; HGNC:11179; SOD1; Simple; p.Asp110Tyr (c.328G>T) (D109Y); ClinVar=VCV000899185; Zygosity=Unspecified (NHCDR=ND41004).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C168749; Amyotrophic lateral sclerosis 1
DI   ORDO; Orphanet_803; Amyotrophic lateral sclerosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   61Y
CA   Finite cell line
DT   Created: 26-09-16; Last updated: 19-12-24; Version: 11
//