ID   ND50068
AC   CVCL_RY49
DR   NHCDR; ND50068
DR   Wikidata; Q54930290
CC   Population: Hispanic.
CC   Sequence variation: Mutation; HGNC; HGNC:11179; SOD1; Simple; p.His44Arg (c.131A>G) (H43R); ClinVar=VCV000014756; Zygosity=Heterozygous (NHCDR=ND50068).
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)
OI   CVCL_UK09 ! CS04iALS-SOD1H44Rn3
SX   Female
AG   35Y
CA   Induced pluripotent stem cell
DT   Created: 14-05-18; Last updated: 19-12-24; Version: 12
//