ID   NH50125
AC   CVCL_UY42
DR   NHCDR; NH50125
DR   Wikidata; Q98127545
CC   Population: African American.
CC   Sequence variation: Mutation; HGNC; HGNC:801; ATP1A3; Simple; p.Glu277Lys (c.829G>A); ClinVar=VCV000012911; Zygosity=Heterozygous; Note=De novo mutation (NHCDR=NH50125).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C157577; Dystonia 12
DI   ORDO; Orphanet_71517; Rapid-onset dystonia-parkinsonism
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   36Y
CA   Finite cell line
DT   Created: 25-02-19; Last updated: 19-12-24; Version: 11
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