Generation of a human induced pluripotent stem cell (iPSC) line (IBMS-iPSC-048-05) from a patient with ALS and parkinsonism having a hexanucleotide repeat expansion mutation in C9orf72 gene


A hexanucleotide repeat expansion in chromosome 9 open reading frame 72 (C9orf72) gene causes a heterogeneous neurodegenerative disorder that includes amyotrophic lateral sclerosis (ALS), frontotemporal degeneration (FTD), and parkinsonism. Here, we used the Sendai virus delivery system to generate induced pluripotent stem cells (iPSCs) from peripheral blood mononuclear cells of a male patient with an increased hexanucleotide repeat expansion in C9orf72. The resulting iPSCs exhibited pluripotency, confirmed by immunofluorescent staining for pluripotency markers, and differentiated into three germ layers in vivo. This cellular model will provide a useful platform for further pathophysiological studies of C9orf72-related neurodegeneration. Copyright © 2020 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Lin HY, Tsai LK, Cheng YC, Lu HE, Huang CY, Hsieh PCH, Lin CH
Journal Stem cell research
Publication Date 2020 Apr;44:101734
PubMed 32151952
DOI 10.1016/j.scr.2020.101734

Research Projects

Cell Lines