Generation of human induced pluripotent stem cell lines (LUMCi051-A,B and LUMCi052-A,B,C) of two patients with Spinocerebellar ataxia type 7

• Published in: Stem cell research Vol. 78; p. 103462
• Main Authors: Bouwman, Linde F., Joosen, Milou E.M., Buijsen, Ronald A.M., van der Graaf, Linda M., Pepers, Barry A., Voesenek, Bas J.B., Brosens, Erwin, van de Warrenburg, Bart P.C., van Roon-Mom, Willeke M.C.
• Format: Journal Article
• Language: English
• Published: England Elsevier B.V 01.08.2024; Elsevier
• Subjects: Adult; Cell Differentiation; Cell Line; Female; Humans; Induced Pluripotent Stem Cells - metabolism; Male; Spinocerebellar Ataxias - genetics; Spinocerebellar Ataxias - pathology
• ISSN: 1873-5061; 1876-7753; 1876-7753
• DOI: 10.1016/j.scr.2024.103462

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.