ID   LUEi005-A
AC   CVCL_UG36
SY   iPS-L-4011-1
DR   hPSCreg; LUEi005-A
DR   Wikidata; Q95983348
RX   PubMed=30316041;
CC   From: Institute of Neurogenetics, University of Lubeck; Lubeck; Germany.
CC   Sequence variation: Mutation; HGNC; HGNC:20856; THAP1; Simple; p.Arg13His (c.38G>A); Zygosity=Heterozygous (PubMed=30316041).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C156361; Torsion dystonia 6
DI   ORDO; Orphanet_98806; Primary dystonia, DYT6 type
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_UG37 ! LUEi005-B
SX   Female
AG   64Y
CA   Induced pluripotent stem cell
DT   Created: 13-11-18; Last updated: 19-12-24; Version: 8
//
RX   PubMed=30316041; DOI=10.1016/j.scr.2018.09.018;
RA   Baumann, Hauke
RA   Jahn, Magdalena
RA   Muenchau, Alexander
RA   Trilck-Winkler, Michaela
RA   Lohmann, Katja
RA   Seibler, Philip
RT   "Generation and characterization of eight human-derived iPSC lines
RT   from affected and unaffected THAP1 mutation carriers.";
RL   Stem Cell Res. 33:60-64(2018).
//