464 resources

Name / ID Type Disease RRID Causal gene(s) Mutation Originating lab
MUSli004-A Cell Lines SCA3 CVCL_VN11 ATXN3 ? Faculty of Medicine Siriraj Hospital (MUSI)
Nes1g FLAG/FLAG Mouse Models SCAR8/ARCA1 — SYNE1 KASH reporter' mouse model Washington University School of Medicine
Nes1g STOP/STOP Mouse Models SCAR8/ARCA1 — SYNE1 Depletion of giant isoforms of Nesprin1 Washington University School of Medicine
NIMHi026-A Cell Lines MSA/OPCA — ? — National Institute of Mental Health and Neurosciences (NIMH)
NIMHi028-A Cell Lines MSA/OPCA — ? — National Institute of Mental Health and Neurosciences (NIMH)
NOP56-(TG3C2)62 Mouse Models SCA36 — NOP56 AAV9 with human NOP56 (TG3C2)62 Mayo Clinic
NYSCF-AD-1000-ASC2-Dura-SV-iPSC1 Cell Lines MSA/OPCA CVCL_AD05 ? — New York Stem Cell Foundation Research Institute
NYSCF-AD-1000-ASC2-Skin-SV-iPSC1 Cell Lines MSA/OPCA CVCL_AD06 ? — New York Stem Cell Foundation Research Institute
Olig001-SYN mouse model Mouse Models MSA/OPCA — Sporadic AAV overexpressing α-synuclein University of Alabama at Birmingham
P1 Cell Lines AOA1 — APTX pW279X/pW279X Columbia University College of Physicians and Surgeons
P1 (MSA-P) Cell Lines MSA/OPCA — ? — University of Milan
P1027 Cell Lines AOA1 — APTX pW279X/pW279X Istituto Neurologico Carlo Besta
P1028 Cell Lines AOA1 — APTX pW279X/pW279X Istituto Neurologico Carlo Besta
P1619 Cell Lines AOA1 — APTX pW279X/pW279X Istituto Neurologico Carlo Besta
P1657 Cell Lines AOA1 — APTX pR306X/pR306X Istituto Neurologico Carlo Besta
P2 Cell Lines AOA1 — APTX pW279X/pW279X Columbia University College of Physicians and Surgeons
P2 (MSA-P) Cell Lines MSA/OPCA — ? — University of Milan
P3 Cell Lines AOA1 — APTX pW279X/* Columbia University College of Physicians and Surgeons
P980 Cell Lines AOA1 — APTX pW279X/pW279X Istituto Neurologico Carlo Besta
Pa1-SCA3 Cell Lines SCA3 — ATXN3 80 CAG Chinese Academy of Sciences
Pa2-SCA3 Cell Lines SCA3 — ATXN3 78 CAG Chinese Academy of Sciences
Patient 1 Cell Lines SPG7 — SPG7 c.1449 + 1G > A (exon 10) and c.1529C>T (exon 11) University of Sydney
Patient 1 (MSA-P) Cell Lines MSA/OPCA — GGC expansion in NOTCH2NLC 112-138 GGC First Affiliated Hospital of Nanchang University
Patient 2 Cell Lines SPG7 — SPG7 c.415C > T (exon 4) and c.941T>A (exon 7) University of Sydney
Patient 3 Cell Lines SPG7 — SPG7 chr16:g.89623293A > G, c.2182-2A > G (intron 16- exon 17) and c.1529C>T (exon 11) University of Sydney
Patient 4 (MSA-C) Cell Lines MSA/OPCA — GGC expansion in NOTCH2NLC 101-126 GGC First Affiliated Hospital of Nanchang University
Patient line 1 Cell Lines SACS/ARSACS/SPAX6 — SACS c.8339T>C (p.Phe2780Cys) and c.12416T>C (p.Leu4139Ser)/c.11675C>G (p.Ser3892X) (sibling from patient line 2) UCL Queen Square Institute of Neurology
Patient line 2 Cell Lines SACS/ARSACS/SPAX6 — SACS c.8339T>C (p.Phe2780Cys) and c.12416T>C (p.Leu4139Ser)/c.11675C>G (p.Ser3892X) (sibling from patient line 1) UCL Queen Square Institute of Neurology
Patient P1 Cell Lines SCA27B — FGF14 295/304 GAA-TTC McGill University
Patient P1 hiPSC clone 4 Cell Lines SCA27B — FGF14 293/303 GAA-TTC McGill University
Patient P1 hiPSC clone 5 Cell Lines SCA27B — FGF14 295/304 GAA-TTC McGill University
Patient P1 hiPSC clone 6 Cell Lines SCA27B — FGF14 291/315 GAA-TTC McGill University
Patient P8 Cell Lines SCA27B — FGF14 9/518 GAA-TTC McGill University
Patient P8 hiPSC clone 1 Cell Lines SCA27B — FGF14 9/597 GAA-TTC McGill University
Patient P8 hiPSC clone 2 Cell Lines SCA27B — FGF14 9/607 GAA-TTC McGill University
Patient P8 hiPSC clone 3 Cell Lines SCA27B — FGF14 9/527 GAA-TTC McGill University
Patient P8 hiPSC clone 5 Cell Lines SCA27B — FGF14 9/525 GAA-TTC McGill University
Patient P9 Cell Lines SCA27B — FGF14 16/409 GAA-TTC McGill University
Patient P9 hiPSC clone 1 Cell Lines SCA27B — FGF14 16/402 GAA-TTC McGill University
Patient P9 hiPSC clone 2.1 Cell Lines SCA27B — FGF14 16/411 GAA-TTC McGill University
Patient P9 hiPSC clone 2.2 Cell Lines SCA27B — FGF14 16/390 GAA-TTC McGill University
Patient P9 hiPSC clone 4 Cell Lines SCA27B — FGF14 16/402 GAA-TTC McGill University
PDGF-ß-EGFP-α-Syn transgenic mouse Mouse Models MSA/OPCA — Sporadic expressing a stable enhanced green fluorescent protein (eGFP) tagged in the C-terminal site of a human (h)α-synuclein construct University of California
PDGF-ß-α-Syn transgenic mouse Mouse Models MSA/OPCA — Sporadic human α-synuclein cDNA University of California
PLP-α-Syn transgenic mouse Mouse Models MSA/OPCA MGI:3,604,008 Sporadic Overexpression of human wild-type α-syn Ludwig Maximilians University
Plp1-tTA::tetO-SNCA*A53T bi-transgenic mice Mouse Models MSA/OPCA — Sporadic mutant A53T human α-syn specifically in oligodendrocytes Kyushu University
PN1 Cell Lines SACS/ARSACS/SPAX6 — SACS p.[(Arg3636Gln;Pro3652Thr)];[Leu3745fsTer1] University of Milan
PN2 Cell Lines SACS/ARSACS/SPAX6 — SACS p.[Cys72fsTer4];[(Arg3636Gln;Pro3652Thr)] University of Milan
PN3 Cell Lines SACS/ARSACS/SPAX6 — SACS p.[Glu723fsTer15];[Phe3209fsTer46] University of Milan
PN4 Cell Lines SACS/ARSACS/SPAX6 — SACS p.[Leu2374Ser];[deleted_allele] University of Milan
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