ID   LUEi001-B
AC   CVCL_UK75
SY   iPS-L-3735-21
DR   hPSCreg; LUEi001-B
DR   Wikidata; Q95983341
CC   From: Institute of Neurogenetics, University of Lubeck; Lubeck; Germany.
CC   Sequence variation: Mutation; HGNC; 20856; THAP1; Simple; p.Lys158Asnfs*23 (c.474delA); ClinVar=VCV000001650; Zygosity=Heterozygous (from autologous cell line LUEi001-A).
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_UG30 ! LUEi001-A
SX   Male
AG   77Y
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 29-06-23; Version: 9
//