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

Linde F. Bouwman*, Milou E.M. Joosen, Ronald A.M. Buijsen, Linda M. van der Graaf, Barry A. Pepers, Bas J.B. Voesenek, Erwin Brosens, Bart P.C. van de Warrenburg, Willeke M.C. van Roon-Mom

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Abstract

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.

Original languageEnglish
Article number103462
JournalStem Cell Research
Volume78
DOIs
Publication statusPublished - Aug 2024

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Publisher Copyright: © 2024 The Author(s)

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