ID   UCSFi001-A-50
AC   CVCL_A8PM
SY   DYT1-HET-H6; YH653-MUT-H6-HET; ULLi002-A-50
DR   BioSamples; SAMEA8868385
DR   hPSCreg; UCSFi001-A-50
DR   Wikidata; Q108821428
CC   From: University of Louisiana at Lafayette; Lafayette; USA.
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:3098; TOR1A; Simple_edited; p.Glu303del (c.907_909delGAG); ClinVar=VCV000005180; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (hPSCreg=UCSFi001-A-50).
CC   Derived from site: In situ; Leg, skin; UBERON=UBERON_0001511.
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)
HI   CVCL_Y803 ! GM25256
SX   Male
AG   30Y
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 19-12-24; Version: 7
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