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@ARTICLE{Manibarathi:268732,
      author       = {Manibarathi, Kalaivani and Pham, Tam and Hengel, Holger and
                      Synofzik, Matthis and Nagel, Maike and Schüle, Rebecca},
      title        = {{A}n i{PSC} model for {POLR}3{A}-associated spastic ataxia:
                      {G}eneration of three unrelated patient cell lines.},
      journal      = {Stem cell research},
      volume       = {76},
      issn         = {1873-5061},
      address      = {Amsterdam [u.a.]},
      publisher    = {Elsevier},
      reportid     = {DZNE-2024-00308},
      pages        = {103363},
      year         = {2024},
      abstract     = {Spastic Ataxias (SA) are a group of neurodegenerative
                      disorders with combined pyramidal and cerebellar system
                      affection, leading to an overlap phenotype between
                      Hereditary Spastic Paraplegias (HSP) and Cerebellar Ataxias
                      (CA). Here we describe the generation of iPSCs from three
                      unrelated patients with an ultra-rare subtype of SA caused
                      by compound heterozygous mutations in POLR3A, that encodes
                      the largest subunit of RNA polymerase III. iPSCs were
                      reprogrammed from normal human dermal fibroblasts (NHDFs)
                      using episomal reprogramming with integration-free plasmid
                      vectors: HIHRSi004-A, derived from a 44 year-old male
                      carrying the mutations c.1909 + 22G > $A/c.3944_3945delTG,$
                      HIHRSi005-A obtained from a 66 year-old male carrying the
                      mutations c.1909 + 22G > A/c.1531C > T, and HIHRSi006-A from
                      a 27 year-old male carrying the mutations c.1909 + 22G >
                      $A/c.2472_2472delC$ (ENST00000372371.8).},
      keywords     = {Male / Humans / Adult / Aged / Muscle Spasticity: genetics
                      / Induced Pluripotent Stem Cells: metabolism /
                      Spinocerebellar Ataxias: genetics / Mutation / Cell Line /
                      RNA Polymerase III: genetics / RNA Polymerase III:
                      metabolism / Intellectual Disability / Optic Atrophy /
                      POLR3A protein, human (NLM Chemicals) / RNA Polymerase III
                      (NLM Chemicals)},
      cin          = {AG Gasser / AG Gloeckner},
      ddc          = {570},
      cid          = {I:(DE-2719)1210000 / I:(DE-2719)1210007},
      pnm          = {353 - Clinical and Health Care Research (POF4-353) / 352 -
                      Disease Mechanisms (POF4-352)},
      pid          = {G:(DE-HGF)POF4-353 / G:(DE-HGF)POF4-352},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:38437768},
      doi          = {10.1016/j.scr.2024.103363},
      url          = {https://pub.dzne.de/record/268732},
}