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Cellosaurus UCSFi001-A-50 (CVCL_A8PM)

[Text version]

Cell line name UCSFi001-A-50
Synonyms DYT1-HET-H6; YH653-MUT-H6-HET; ULLi002-A-50
Accession CVCL_A8PM
Resource Identification Initiative To cite this cell line use: UCSFi001-A-50 (RRID:CVCL_A8PM)
Comments From: University of Louisiana at Lafayette; Lafayette; USA.
Population: Japanese.
Derived from sampling site: Leg; skin. Cell type=Fibroblast.
Sequence variations
  • Mutation; HGNC; 3098; TOR1A; Simple_edited; p.Glu303del (c.907_909delGAG); ClinVar=VCV000005180; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=34536661).
Disease Autosomal dominant torsion dystonia 1 (NCIt: C118780)
Early-onset generalized limb-onset dystonia (ORDO: Orphanet_256)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_Y803 (GM25256)
Sex of cell Male
Age at sampling 30Y
Category Induced pluripotent stem cell
Cross-references
Cell line databases/resources hPSCreg; UCSFi001-A-50
Biological sample resources BioSamples; SAMEA8868385
Encyclopedic resources Wikidata; Q108821428
Entry history
Entry creation23-Sep-2021
Last entry update17-Mar-2022
Version number3