ID   NH50164
AC   CVCL_UX42
DR   NHCDR; NH50164
DR   Wikidata; Q98127591
CC   Sequence variation: Mutation; HGNC; HGNC:11179; SOD1; Simple; p.Ala5Val (c.14C>T) (A4V); ClinVar=VCV000014763; Zygosity=Unspecified (NHCDR=NH50164).
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)
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 19-12-24; Version: 10
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