TY  - JOUR
AU  - Manibarathi, Kalaivani
AU  - Pham, Tam
AU  - Hengel, Holger
AU  - Synofzik, Matthis
AU  - Nagel, Maike
AU  - Schüle, Rebecca
TI  - An iPSC model for POLR3A-associated spastic ataxia: Generation of three unrelated patient cell lines.
JO  - Stem cell research
VL  - 76
SN  - 1873-5061
CY  - Amsterdam [u.a.]
PB  - Elsevier
M1  - DZNE-2024-00308
SP  - 103363
PY  - 2024
AB  - 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).
KW  - Male
KW  - Humans
KW  - Adult
KW  - Aged
KW  - Muscle Spasticity: genetics
KW  - Induced Pluripotent Stem Cells: metabolism
KW  - Spinocerebellar Ataxias: genetics
KW  - Mutation
KW  - Cell Line
KW  - RNA Polymerase III: genetics
KW  - RNA Polymerase III: metabolism
KW  - Intellectual Disability
KW  - Optic Atrophy
KW  - POLR3A protein, human (NLM Chemicals)
KW  - RNA Polymerase III (NLM Chemicals)
LB  - PUB:(DE-HGF)16
C6  - pmid:38437768
DO  - DOI:10.1016/j.scr.2024.103363
UR  - https://pub.dzne.de/record/268732
ER  -