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Cellosaurus LUEi020-A-1 (CVCL_E4H1)

[Text version]
Cell line name LUEi020-A-1
Synonyms iPS-L9827-6_TOR1A_WT-3xFLAG/dGAG
Accession CVCL_E4H1
Resource Identification Initiative To cite this cell line use: LUEi020-A-1 (RRID:CVCL_E4H1)
Comments From: Institute of Neurogenetics, University of Lubeck; Lubeck; Germany.
Characteristics: Using CRISPR/Cas9 a 3xFLAG tag was inserted at the C-terminus of the non-mutated TOR1A allele (PubMed=39490211).
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:3098; TOR1A; Simple; p.Glu303del (c.907_909delGAG); ClinVar=VCV000005180; Zygosity=Heterozygous (from parent cell line).
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_E4H0 (LUEi020-A)
Sex of cell Female
Age at sampling 36Y
Category Induced pluripotent stem cell
Publications

PubMed=39490211; DOI=10.1016/j.scr.2024.103595
Tanzer K., Meier B., Vulinovic F., Pawlack H., Klein C., Seibler P., Rakovic A.
Generation of four human-derived iPSC torsinA-3xFLAG reporter lines from a DYT-TOR1A patient.
Stem Cell Res. 81:103595-103595(2024)

Cross-references
Cell line databases/resources hPSCreg; LUEi020-A-1
Entry history
Entry creation19-Dec-2024
Last entry update19-Dec-2024
Version number1