ID   ND34510
AC   CVCL_UT54
DR   Coriell; ND34510
DR   Wikidata; Q98127460
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:20856; THAP1; Simple; p.Ile149Thr (c.446T>C); Zygosity=Heterozygous (Coriell=ND34510).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C156361; Torsion dystonia 6
DI   ORDO; Orphanet_98806; Primary dystonia, DYT6 type
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_EZ51 ! ND40075
SX   Male
AG   66Y
CA   Transformed cell line
DT   Created: 25-02-19; Last updated: 19-12-24; Version: 8
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