ID   LUEi020-A-3
AC   CVCL_E4H3
SY   iPS-L9827-6_TOR1A_dGAG-3xFLAG/dGAG
DR   hPSCreg; LUEi020-A-3
RX   PubMed=39490211;
CC   From: Institute of Neurogenetics, University of Lubeck; Lubeck; Germany.
CC   Characteristics: Using CRISPR/Cas9 a 3xFLAG tag was inserted at the C-terminus of both the mutated TOR1A allele and an edited mutated second allele (PubMed=39490211).
CC   Sequence variation: Mutation; HGNC; HGNC:3098; TOR1A; Simple; p.Glu303del (c.907_909delGAG); ClinVar=VCV000005180; Zygosity=Heterozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; HGNC:3098; TOR1A; Simple_edited; p.Glu303del (c.907_909delGAG); ClinVar=VCV000005180; Zygosity=Heterozygous; Note=By CRISP/Cas9 (PubMed=39490211).
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)
HI   CVCL_E4H0 ! LUEi020-A
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=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).
//