ID   ND50096
AC   CVCL_SA38
DR   NHCDR; ND50096
DR   Wikidata; Q54930324
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:11179; SOD1; Simple; p.Ile114Thr (c.341T>C) (I113T); ClinVar=VCV000197145; Zygosity=Unspecified (NHCDR=ND50096).
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)
OI   CVCL_UK12 ! CS22iALS-SOD1I114Tn2
SX   Male
AG   51Y
CA   Induced pluripotent stem cell
DT   Created: 14-05-18; Last updated: 19-12-24; Version: 10
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