Generation of human induced pluripotent stem cell lines (LUMCi051-A,B and LUMCi052-A,B,C) of two patients with Spinocerebellar ataxia type 7
Summary
Spinocerebellar Ataxia Type 7 (SCA7) is an autosomal dominantly inherited disorder, primarily characterized by cerebellar ataxia and visual loss. SCA7 is caused by a CAG repeat expansion in exon 3 of the ATXN7 gene. We generated human induced pluripotent stem cells (hiPSCs) from peripheral blood-derived erythroblasts from two SCA7 patients (LUMCi051-A,B and LUMCi052-A,B,C) using integration-free episomal vectors. All hiPSC clones express pluripotency factors, show a normal karyotype, and can differentiate into the three germ layers. These lines can be used for in vitro disease modeling and therapy testing. Copyright © 2024 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Bouwman LF, Joosen MEM, Buijsen RAM, van der Graaf LM, Pepers BA, Voesenek BJB, Brosens E, van de Warrenburg BPC, van Roon-Mom WMC |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Aug;78:103462 |
| PubMed | 38851031 |
| DOI | 10.1016/j.scr.2024.103462 |