ID   ND39036
AC   CVCL_Y826
DR   Coriell; ND39036
DR   NHCDR; ND39036
DR   SKIP; SKIP001085
DR   SKIP; SKIP004714
DR   Wikidata; Q54930103
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:11179; SOD1; Simple; p.Gly86Arg (c.256G>C) (G85R); ClinVar=VCV000014758; Zygosity=Unspecified (NHCDR=ND39036).
CC   Donor information: At sampling donor was not affected with amyotrophic lateral sclerosis but at risk for disease.
CC   Discontinued: Coriell; ND39036; true.
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)
HI   CVCL_A9P9 ! ND39028
SX   Male
AG   78Y
CA   Induced pluripotent stem cell
DT   Created: 10-04-15; Last updated: 19-12-24; Version: 18
//