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000268732 0247_ $$2doi$$a10.1016/j.scr.2024.103363
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000268732 037__ $$aDZNE-2024-00308
000268732 041__ $$aEnglish
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000268732 1001_ $$0P:(DE-2719)9002385$$aManibarathi, Kalaivani$$b0$$eFirst author$$udzne
000268732 245__ $$aAn iPSC model for POLR3A-associated spastic ataxia: Generation of three unrelated patient cell lines.
000268732 260__ $$aAmsterdam [u.a.]$$bElsevier$$c2024
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000268732 520__ $$aSpastic 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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000268732 650_7 $$0EC 2.7.7.6$$2NLM Chemicals$$aPOLR3A protein, human
000268732 650_7 $$0EC 2.7.7.6$$2NLM Chemicals$$aRNA Polymerase III
000268732 650_2 $$2MeSH$$aMale
000268732 650_2 $$2MeSH$$aHumans
000268732 650_2 $$2MeSH$$aAdult
000268732 650_2 $$2MeSH$$aAged
000268732 650_2 $$2MeSH$$aMuscle Spasticity: genetics
000268732 650_2 $$2MeSH$$aInduced Pluripotent Stem Cells: metabolism
000268732 650_2 $$2MeSH$$aSpinocerebellar Ataxias: genetics
000268732 650_2 $$2MeSH$$aMutation
000268732 650_2 $$2MeSH$$aCell Line
000268732 650_2 $$2MeSH$$aRNA Polymerase III: genetics
000268732 650_2 $$2MeSH$$aRNA Polymerase III: metabolism
000268732 650_2 $$2MeSH$$aIntellectual Disability
000268732 650_2 $$2MeSH$$aOptic Atrophy
000268732 7001_ $$0P:(DE-HGF)0$$aPham, Tam$$b1
000268732 7001_ $$0P:(DE-2719)2811940$$aHengel, Holger$$b2
000268732 7001_ $$0P:(DE-2719)2811275$$aSynofzik, Matthis$$b3$$udzne
000268732 7001_ $$0P:(DE-2719)2812101$$aNagel, Maike$$b4
000268732 7001_ $$0P:(DE-2719)2812018$$aSchüle, Rebecca$$b5$$eLast author$$udzne
000268732 773__ $$0PERI:(DE-600)2393143-7$$a10.1016/j.scr.2024.103363$$gVol. 76, p. 103363 -$$p103363$$tStem cell research$$v76$$x1873-5061$$y2024
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