Cellosaurus cell line LUEi001-A (CVCL

Cross-references
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; 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)
Cell line databases/resources	hPSCreg; LUEi001-A
Encyclopedic resources	Wikidata; Q95983340
Entry history
Entry creation	13-Nov-2018
Last entry update	19-Dec-2024
Version number	10