ID   LUEi020-A
AC   CVCL_E4H0
SY   iPS-L9827-6
DR   hPSCreg; LUEi020-A
RX   PubMed=32516804;
RX   PubMed=39490211;
CC   From: Institute of Neurogenetics, University of Lubeck; Lubeck; Germany.
CC   Sequence variation: Mutation; HGNC; HGNC:3098; TOR1A; Simple; p.Glu303del (c.907_909delGAG); ClinVar=VCV000005180; Zygosity=Heterozygous (PubMed=32516804).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C118780; Autosomal dominant torsion dystonia 1
DI   ORDO; Orphanet_256; Early-onset generalized limb-onset dystonia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   36Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-24; Last updated: 19-12-24; Version: 1
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RX   PubMed=32516804; DOI=10.1093/brain/awaa139;
RA   Cascalho A.C.C., Foroozandeh J., Hennebel L., Swerts J., Klein C.,
RA   Rous S., Dominguez Gonzalez B., Pisani A., Meringolo M., Gallego S.F.,
RA   Verstreken P., Seibler P., Goodchild R.E.;
RT   "Excess lipin enzyme activity contributes to TOR1A recessive disease
RT   and DYT-TOR1A dystonia.";
RL   Brain 143:1746-1765(2020).
//
RX   PubMed=39490211; DOI=10.1016/j.scr.2024.103595;
RA   Tanzer K., Meier B., Vulinovic F., Pawlack H., Klein C., Seibler P.,
RA   Rakovic A.;
RT   "Generation of four human-derived iPSC torsinA-3xFLAG reporter lines
RT   from a DYT-TOR1A patient.";
RL   Stem Cell Res. 81:103595-103595(2024).
//