Table 5.

Patient‐derived cellular in vitro C9ORF72 models

Systematic overview of all studies employing and characterizing patient‐derived in vitro models for C9ORF72 ALS/FTD. For each model, repeat length, use of isogenic control, phenotyping, DPR detection, RNA foci, and TDP43 pathology are reported systematically. Upper part of table contains studies assessing DPR and/or RNA foci presence. Four studies (Burguete et al, 2015; Mori et al, 2016; Niblock et al, 2016; Webster et al, 2016) were excluded because no characterization was performed. If a survival phenotype was observed upon additional treatment, this treatment is indicated.

Abbreviations: AS, antisense; ASO, antisense oligonucleotide; ER, endoplasmic reticulum; iPSNs, induced pluripotent stem cell‐derived neurons; KD, knockdown; NA, not assessed; OE, overexpression; S, sense.

Increased in cortical neurons, not in motor neurons.