دورية أكاديمية

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

التفاصيل البيبلوغرافية
العنوان: Generation of human induced pluripotent stem cell lines (LUMCi051-A,B and LUMCi052-A,B,C) of two patients with Spinocerebellar ataxia type 7
المؤلفون: 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
المصدر: Stem Cell Research, Vol 78, Iss , Pp 103462- (2024)
بيانات النشر: Elsevier, 2024.
سنة النشر: 2024
المجموعة: LCC:Biology (General)
مصطلحات موضوعية: Biology (General), QH301-705.5
الوصف: 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.
نوع الوثيقة: article
وصف الملف: electronic resource
اللغة: English
تدمد: 1873-5061
Relation: http://www.sciencedirect.com/science/article/pii/S1873506124001600; https://doaj.org/toc/1873-5061
DOI: 10.1016/j.scr.2024.103462
URL الوصول: https://doaj.org/article/86fe66bc57d249828c2aae4cc8264041
رقم الأكسشن: edsdoj.86fe66bc57d249828c2aae4cc8264041
قاعدة البيانات: Directory of Open Access Journals
الوصف
تدمد:18735061
DOI:10.1016/j.scr.2024.103462