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

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-der...

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Veröffentlicht in:Stem cell research 2024-08, Vol.78, p.103462, Article 103462
Hauptverfasser: 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.
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Sprache:eng
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Zusammenfassung: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.
ISSN:1873-5061
1876-7753
1876-7753
DOI:10.1016/j.scr.2024.103462