ID   ND35673
AC   CVCL_Y805
SY   ND35673*C
DR   Coriell; ND35673
DR   NHCDR; ND35673
DR   SKIP; SKIP001081
DR   SKIP; SKIP004698
DR   Wikidata; Q54929888
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:11179; SOD1; Simple; p.Ala5Val (c.14C>T) (A4V); ClinVar=VCV000014763; Zygosity=Unspecified (NHCDR=ND35673).
CC   Donor information: At sampling donor was not affected with amyotrophic lateral sclerosis but at risk for disease.
CC   Discontinued: Coriell; ND35673; 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_Y806 ! ND39023
SX   Female
AG   45Y
CA   Induced pluripotent stem cell
DT   Created: 10-04-15; Last updated: 19-12-24; Version: 19
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