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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.
Stem cell research, August 2024, 2024-08-00, 20240801, 2024-08-01, Letnik: 78Journal Article
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.
