TY - JOUR
T1 - Generation of human induced pluripotent stem cell lines (LUMCi051-A,B and LUMCi052-A,B,C) of two patients with Spinocerebellar ataxia type 7
AU - Bouwman, Linde F.
AU - Joosen, Milou E.M.
AU - Buijsen, Ronald A.M.
AU - van der Graaf, Linda M.
AU - Pepers, Barry A.
AU - Voesenek, Bas J.B.
AU - Brosens, Erwin
AU - van de Warrenburg, Bart P.C.
AU - van Roon-Mom, Willeke M.C.
N1 - Publisher Copyright: © 2024 The Author(s)
PY - 2024/8
Y1 - 2024/8
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85195265840&partnerID=8YFLogxK
U2 - 10.1016/j.scr.2024.103462
DO - 10.1016/j.scr.2024.103462
M3 - Article
C2 - 38851031
AN - SCOPUS:85195265840
SN - 1873-5061
VL - 78
JO - Stem Cell Research
JF - Stem Cell Research
M1 - 103462
ER -
