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[Preprint]. 2023 Oct 28:rs.3.rs-3127017. [Version 1] doi: 10.21203/rs.3.rs-3127017/v1

Table 1:

Clinical phenotype of subjects used in the study

iPSCs Control/Mutation Disease condition Age Sex iPS cell source Citation
Ctrl1 Healthy control None reported 69 F Blood cells Hollmann et al., 2020
Ctrl2 (Difficult clone) Healthy control None reported 6 M Fibroblasts Mattis et al., 2012, Le Cann et al., 2021
SFN Nav1.9 (p.N1169S) and Nav1.8 (p.R923H) variant Small fiber neuropathy 69 F Fibroblasts Namer et al., 2019
IEM Nav1.7 (p.Q875E) Inherited erythromelalgia 9 F Blood cells Kalia et al., 2023 (Manuscript in preparation)
ANAT001 (RealDRG) Healthy control None reported Neonatal F Blood cells (cord blood derived) -