Table 2.

Human cellular models of SPG11-related pathology

Cell type	Patients, n	Observed phenotype	Neuro- developmental defects	Neuro- degenerative defects	References
Fibroblasts	ND	Lysosomal abnormality	–	–	Renvoise et al., 2014
	8	No significant alteration in autophagic/lysosomal markers	–	–	Kara et al., 2016
Patient fibroblasts and spatacsin-depleted HeLa cells	ND	Autophagic lysosomal reformation (ALR) defects	No	Yes	Chang et al., 2014
	3	Autophagy defects	–	–	Vantaggiato et al., 2019
Patient iPSC-derived NPCs and neurospheres	3a	Proliferation defect	Yes	No	Mishra et al., 2016
Patient iPSC-derived neurospheres	3a	Premature neurogenesis	Yes	No	Perez-Branguli et al., 2019
Patient iPSC-derived cortical neurons	3a	Axonal pathology and vesicle trafficking defects.	No	Yes	Perez-Branguli et al., 2014
	3a	Neurite impairment, increased cell death	No	Yes	Pozner et al., 2018
Patient iPSC-derived organoids	3a	Smaller organoid size	Yes	No	Perez-Branguli et al., 2019
	2	Lipid metabolism	Yes	Yes	Boutry et al., 2018

iPSC = induced pluripotent stem cells; ND = no data; NPC = neural progenitor cells.

^aIndicates the same patients.