Cell Lines SCA3 Pa2-SCA3 Cell type hiPSC Causal gene(s) ATXN3 Mutation 78 CAG Originating lab Chinese Academy of Sciences View details →
Cell Lines SPG7 Patient 1 Cell type hiPSC Causal gene(s) SPG7 Mutation c.1449 + 1G > A (exon 10) and c.1529C>T (exon 11) Originating lab University of Sydney View details →
Cell Lines MSA/OPCA Patient 1 (MSA-P) Cell type Fibroblast Causal gene(s) GGC expansion in NOTCH2NLC Mutation 112-138 GGC Originating lab First Affiliated Hospital of Nanchang University View details →
Cell Lines SPG7 Patient 2 Cell type hiPSC Causal gene(s) SPG7 Mutation c.415C > T (exon 4) and c.941T>A (exon 7) Originating lab University of Sydney View details →
Cell Lines SPG7 Patient 3 Cell type hiPSC Causal gene(s) SPG7 Mutation chr16:g.89623293A > G, c.2182-2A > G (intron 16- exon 17) and c.1529C>T (exon 11) Originating lab University of Sydney View details →
Cell Lines MSA/OPCA Patient 4 (MSA-C) Cell type Fibroblast Causal gene(s) GGC expansion in NOTCH2NLC Mutation 101-126 GGC Originating lab First Affiliated Hospital of Nanchang University View details →
Cell Lines SACS/ARSACS/SPAX6 Patient line 1 Cell type Fibroblast Causal gene(s) SACS Mutation c.8339T>C (p.Phe2780Cys) and c.12416T>C (p.Leu4139Ser)/c.11675C>G (p.Ser3892X) (sibling from patient line 2) Originating lab UCL Queen Square Institute of Neurology View details →
Cell Lines SACS/ARSACS/SPAX6 Patient line 2 Cell type Fibroblast Causal gene(s) SACS Mutation c.8339T>C (p.Phe2780Cys) and c.12416T>C (p.Leu4139Ser)/c.11675C>G (p.Ser3892X) (sibling from patient line 1) Originating lab UCL Queen Square Institute of Neurology View details →
Cell Lines SCA27B Patient P1 Cell type Fibroblast Causal gene(s) FGF14 Mutation 295/304 GAA-TTC Originating lab McGill University View details →
Cell Lines SCA27B Patient P1 hiPSC clone 4 Cell type hiPSC Causal gene(s) FGF14 Mutation 293/303 GAA-TTC Originating lab McGill University View details →
Cell Lines SCA27B Patient P1 hiPSC clone 5 Cell type hiPSC Causal gene(s) FGF14 Mutation 295/304 GAA-TTC Originating lab McGill University View details →
Cell Lines SCA27B Patient P1 hiPSC clone 6 Cell type hiPSC Causal gene(s) FGF14 Mutation 291/315 GAA-TTC Originating lab McGill University View details →
Cell Lines SCA27B Patient P8 Cell type Fibroblast Causal gene(s) FGF14 Mutation 9/518 GAA-TTC Originating lab McGill University View details →
Cell Lines SCA27B Patient P8 hiPSC clone 1 Cell type hiPSC Causal gene(s) FGF14 Mutation 9/597 GAA-TTC Originating lab McGill University View details →
Cell Lines SCA27B Patient P8 hiPSC clone 2 Cell type hiPSC Causal gene(s) FGF14 Mutation 9/607 GAA-TTC Originating lab McGill University View details →
Cell Lines SCA27B Patient P8 hiPSC clone 3 Cell type hiPSC Causal gene(s) FGF14 Mutation 9/527 GAA-TTC Originating lab McGill University View details →
Cell Lines SCA27B Patient P8 hiPSC clone 5 Cell type hiPSC Causal gene(s) FGF14 Mutation 9/525 GAA-TTC Originating lab McGill University View details →
Cell Lines SCA27B Patient P9 Cell type Fibroblast Causal gene(s) FGF14 Mutation 16/409 GAA-TTC Originating lab McGill University View details →
Cell Lines SCA27B Patient P9 hiPSC clone 1 Cell type hiPSC Causal gene(s) FGF14 Mutation 16/402 GAA-TTC Originating lab McGill University View details →
Cell Lines SCA27B Patient P9 hiPSC clone 2.1 Cell type hiPSC Causal gene(s) FGF14 Mutation 16/411 GAA-TTC Originating lab McGill University View details →
