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Cellosaurus LUEi001-A (CVCL_UG30)

[Text version]
Cell line name LUEi001-A
Synonyms iPS-L-3735-5
Accession CVCL_UG30
Resource Identification Initiative To cite this cell line use: LUEi001-A (RRID:CVCL_UG30)
Comments From: Institute of Neurogenetics, University of Lubeck; Lubeck; Germany.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 20856; THAP1; Simple; p.Lys158Asnfs*23 (c.474delA); ClinVar=VCV000001650; Zygosity=Heterozygous (PubMed=30316041).
Disease Torsion dystonia 6 (NCIt: C156361)
Primary dystonia, DYT6 type (ORDO: Orphanet_98806)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_UK75 ! LUEi001-B
Sex of cell Male
Age at sampling 77Y
Category Induced pluripotent stem cell
Publications

PubMed=30316041; DOI=10.1016/j.scr.2018.09.018
Baumann H., Jahn M., Muenchau A., Trilck-Winkler M., Lohmann K., Seibler P.
Generation and characterization of eight human-derived iPSC lines from affected and unaffected THAP1 mutation carriers.
Stem Cell Res. 33:60-64(2018)

Cross-references
Cell line databases/resources hPSCreg; LUEi001-A
Encyclopedic resources Wikidata; Q95983340
Entry history
Entry creation13-Nov-2018
Last entry update29-Jun-2023
Version number9