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Cellosaurus LUEi001-B (CVCL_UK75)

[Text version]
Cell line name LUEi001-B
Synonyms iPS-L-3735-21
Accession CVCL_UK75
Resource Identification Initiative To cite this cell line use: LUEi001-B (RRID:CVCL_UK75)
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 (from autologous cell line LUEi001-A).
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_UG30 ! LUEi001-A
Sex of cell Male
Age at sampling 77Y
Category Induced pluripotent stem cell
Cell line databases/resources hPSCreg; LUEi001-B
Encyclopedic resources Wikidata; Q95983341
Entry history
Entry creation25-Feb-2019
Last entry update29-Jun-2023
Version number9