ID   ND50079
AC   CVCL_SA25
DR   NHCDR; ND50079
DR   Wikidata; Q54930307
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:11179; SOD1; Simple; p.Glu50Lys (c.148G>A) (E49K); ClinVar=VCV000658902; Zygosity=Unspecified (NHCDR=ND50079).
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_T862 ! ND39026
SX   Female
AG   49Y
CA   Induced pluripotent stem cell
DT   Created: 14-05-18; Last updated: 19-12-24; Version: 12
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