Generation of 3 spinocerebellar ataxia type 1 (SCA1) patient-derived induced pluripotent stem cell lines LUMCi002-A, B, and C and 2 unaffected sibling control induced pluripotent stem cell lines LUMCi003-A and B

产生 3 种脊髓小脑共济失调 1 型 (SCA1) 患者来源的诱导性多能干细胞系 LUMCi002-A、B 和 C,以及 2 种未受影响的同胞对照诱导性多能干细胞系 LUMCi003-A 和 B

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作者:Ronald A M Buijsen, Sarah L Gardiner, Marga J Bouma, Linda M van der Graaf, Merel W Boogaard, Barry A Pepers, Bert Eussen, Annelies de Klein, Christian Freund, Willeke M C van Roon-Mom

Abstract

Spinocerebellar ataxia type 1 (SCA1) is a hereditary neurodegenerative disease caused by a CAG repeat expansion in exon 8 of the ATXN1 gene. We generated induced pluripotent stem cells (hiPSCs) from a SCA1 patient and his non-affected sister by using non-integrating Sendai Viruses (SeV). The resulting hiPSCs are SeVfree, express pluripotency markers, display a normal karyotype, retain the mutation (length of the CAG repeat expansion in the ATXN1 gene) and are able to differentiate into the three germ layers in vitro.

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