ID   NH50199
AC   CVCL_YP35
DR   NHCDR; NH50199
DR   Wikidata; Q98127643
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:3098; TOR1A; Simple; p.Glu303del (c.907_909delGAG); ClinVar=VCV000005180; Zygosity=Heterozygous (NHCDR=NH50199).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C118780; Autosomal dominant torsion dystonia 1
DI   ORDO; Orphanet_256; Early-onset generalized limb-onset dystonia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   20Y
CA   Finite cell line
DT   Created: 12-03-20; Last updated: 19-12-24; Version: 9
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