ID   ND40075
AC   CVCL_EZ51
DR   Coriell; ND40075
DR   NHCDR; ND40075
DR   Wikidata; Q54930156
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:20856; THAP1; Simple; p.Ile149Thr (c.446T>C); Zygosity=Heterozygous (NHCDR=ND40075).
CC   Discontinued: Coriell; ND40075; true.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C156361; Torsion dystonia 6
DI   ORDO; Orphanet_98806; Primary dystonia, DYT6 type
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_UT54 ! ND34510
SX   Male
AG   66Y
CA   Finite cell line
DT   Created: 26-09-16; Last updated: 19-12-24; Version: 12
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