ID   ND39021
AC   CVCL_EZ31
DR   Coriell; ND39021
DR   NHCDR; ND39021
DR   Wikidata; Q54930094
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:11179; SOD1; Simple; p.Ile113Thr (c.338T>C) (I112T); ClinVar=VCV000014762; Zygosity=Unspecified (NHCDR=ND39021).
CC   Donor information: At sampling donor was not affected with amyotrophic lateral sclerosis but at risk for disease.
CC   Discontinued: Coriell; ND39021; 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   Female
AG   43Y
CA   Finite cell line
DT   Created: 26-09-16; Last updated: 19-12-24; Version: 14
//