ID   GM08882
AC   CVCL_BD95
DR   CLO; CLO_0010514
DR   BioSample; SAMN00798246
DR   Coriell; GM08882
DR   Wikidata; Q54843366
CC   Sequence variation: Mutation; HGNC; HGNC:11179; SOD1; Simple; p.Glu101Gly (c.302A>G) (E100G); ClinVar=VCV000014761; Zygosity=Heterozygous (Coriell=GM08882).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C168749; Amyotrophic lateral sclerosis 1
DI   ORDO; Orphanet_803; Amyotrophic lateral sclerosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   55Y
CA   Transformed cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 13
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