ID   ND39028
AC   CVCL_A9P9
DR   Coriell; ND39028
DR   Wikidata; Q102114588
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:11179; SOD1; Simple; p.Gly86Arg (c.256G>C) (G85R); ClinVar=VCV000014758; Zygosity=Unspecified (Coriell=ND39028).
CC   Donor information: At sampling donor was not affected with amyotrophic lateral sclerosis but at risk for disease.
CC   Discontinued: Coriell; ND39028; 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)
SX   Male
AG   78Y
CA   Finite cell line
DT   Created: 29-10-20; Last updated: 19-12-24; Version: 9
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