We established two HESC lines with a C9 mutation (SZ-ALS1, SZ-ALS3) from embryos, which were obtained through preimplantation genetic diagnosis (PGD) and donated for cell line derivation by a family in which the mother was an expansion carrier (originally diagnosed as a carrier of an expansion with >40 repeats in blood by a repeat primed PCR). In addition, we generated halo-identical and unrelated C9/ALS iPSCs from a skin biopsies of the C9 carrier mother (patient H, 30 years-old), and from an unrelated C9/ALS patient, 2 years following disease-onset (patient M, 65 years-old). SOURCE: Sebastian Kadener (skadener@mail.huji.ac.il) -  Hebrew University

Pluto Bioinformatics

GSE87273: C9/ALS Human Embryonic Stem Cells and C9/ALS Induced Pluripotent Stem Cells