TY - JOUR
T1 - Generation and characterization of a human iPSC line from an ALS patient carrying the Q66K-MATR3 mutation
AU - Pollini, Daniele
AU - Loffredo, Rosa
AU - Cardano, Marina
AU - Conti, Luciano
AU - Lattante, Serena
AU - Notarangelo, Angelantonio
AU - Sabatelli, Mario
AU - Provenzani, Alessandro
PY - 2018/12/1
Y1 - 2018/12/1
N2 - Fibroblasts isolated from an Amyotrophic Lateral Sclerosis (ALS)-patient carrying a mutation in Matrin-3 (p.Q66K -MATR3) gene were reprogrammed to the pluripotency stage by using non-integrating episomal plasmids. We generated the Q66K#44DRM induced pluripotent stem cell (iPSC) line that showed regular karyotype, expressed pluripotency-associated markers and were able to properly differentiate into the three germ layers. The heterozygous missense mutation in the MATR3 gene (p.Q66K), which is associated to ALS disease, was present in the generated iPSC line. Resource table [Table presented]
AB - Fibroblasts isolated from an Amyotrophic Lateral Sclerosis (ALS)-patient carrying a mutation in Matrin-3 (p.Q66K -MATR3) gene were reprogrammed to the pluripotency stage by using non-integrating episomal plasmids. We generated the Q66K#44DRM induced pluripotent stem cell (iPSC) line that showed regular karyotype, expressed pluripotency-associated markers and were able to properly differentiate into the three germ layers. The heterozygous missense mutation in the MATR3 gene (p.Q66K), which is associated to ALS disease, was present in the generated iPSC line. Resource table [Table presented]
UR - http://www.scopus.com/inward/record.url?scp=85055174283&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85055174283&partnerID=8YFLogxK
U2 - 10.1016/j.scr.2018.10.011
DO - 10.1016/j.scr.2018.10.011
M3 - Article
C2 - 30366341
AN - SCOPUS:85055174283
SN - 1873-5061
VL - 33
SP - 146
EP - 150
JO - Stem Cell Research
JF - Stem Cell Research
ER -