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Cellosaurus LUEi020-A (CVCL_E4H0)

[Text version]
Cell line name LUEi020-A
Synonyms iPS-L9827-6
Accession CVCL_E4H0
Resource Identification Initiative To cite this cell line use: LUEi020-A (RRID:CVCL_E4H0)
Comments From: Institute of Neurogenetics, University of Lubeck; Lubeck; Germany.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
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 Children:
CVCL_E4H1 (LUEi020-A-1)CVCL_E4H2 (LUEi020-A-2)CVCL_E4H3 (LUEi020-A-3)
CVCL_E4H4 (LUEi020-A-4)
Sex of cell Female
Age at sampling 36Y
Category Induced pluripotent stem cell
Publications

PubMed=32516804; DOI=10.1093/brain/awaa139
Cascalho A.C.C., Foroozandeh J., Hennebel L., Swerts J., Klein C., Rous S., Dominguez Gonzalez B., Pisani A., Meringolo M., Gallego S.F., Verstreken P., Seibler P., Goodchild R.E.
Excess lipin enzyme activity contributes to TOR1A recessive disease and DYT-TOR1A dystonia.
Brain 143:1746-1765(2020)

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
Entry history
Entry creation19-Dec-2024
Last entry update19-Dec-2024
Version number1