Home > Publications Database > An iPSC model for POLR3A-associated spastic ataxia: Generation of three unrelated patient cell lines. > print

001     268732
005     20240419133852.0
024 7 _ |a 10.1016/j.scr.2024.103363
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024 7 _ |a 1873-5061
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037 _ _ |a DZNE-2024-00308
041 _ _ |a English
082 _ _ |a 570
100 1 _ |a Manibarathi, Kalaivani
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245 _ _ |a An iPSC model for POLR3A-associated spastic ataxia: Generation of three unrelated patient cell lines.
260 _ _ |a Amsterdam [u.a.]
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|b Elsevier
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520 _ _ |a 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).
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588 _ _ |a Dataset connected to CrossRef, PubMed, , Journals: pub.dzne.de
650 _ 7 |a POLR3A protein, human
|0 EC 2.7.7.6
|2 NLM Chemicals
650 _ 7 |a RNA Polymerase III
|0 EC 2.7.7.6
|2 NLM Chemicals
650 _ 2 |a Male
|2 MeSH
650 _ 2 |a Humans
|2 MeSH
650 _ 2 |a Adult
|2 MeSH
650 _ 2 |a Aged
|2 MeSH
650 _ 2 |a Muscle Spasticity: genetics
|2 MeSH
650 _ 2 |a Induced Pluripotent Stem Cells: metabolism
|2 MeSH
650 _ 2 |a Spinocerebellar Ataxias: genetics
|2 MeSH
650 _ 2 |a Mutation
|2 MeSH
650 _ 2 |a Cell Line
|2 MeSH
650 _ 2 |a RNA Polymerase III: genetics
|2 MeSH
650 _ 2 |a RNA Polymerase III: metabolism
|2 MeSH
650 _ 2 |a Intellectual Disability
|2 MeSH
650 _ 2 |a Optic Atrophy
|2 MeSH
700 1 _ |a Pham, Tam
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700 1 _ |a Hengel, Holger
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700 1 _ |a Synofzik, Matthis
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700 1 _ |a Nagel, Maike
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700 1 _ |a Schüle, Rebecca
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773 _ _ |a 10.1016/j.scr.2024.103363
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