Description:
AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1
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Repository
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NINDS Repository
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| Subcollection |
Motor Neuron Disease |
| Quantity |
3 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Sample Source
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DNA from LCL
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Race
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White
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Subject Type
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family with at least 3 members, including 1 proband, not a trio
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Ethnicity
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Not Hispanic/Latino
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Ethnicity
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WELSH
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Country of Origin
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USA
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Family Member
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4
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Family History
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Y
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Relation to Proband
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proband
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Species
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Homo sapiens
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Common Name
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Human
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| Gene |
C9ORF72 |
| Chromosomal Location |
9p21 |
| Allelic Variant 1 |
614260.0001; FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS |
| Identified Mutation |
(GGGGCC)n EXPANSION;
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| Salomon-Zimri S, Kerem N, Linares GR, Russek-Blum N, Ichida JK, Tracik F, Elucidating the Synergistic Effect of the PrimeC Combination for Amyotrophic Lateral Sclerosis in Human Induced Pluripotent Stem Cell-Derived Motor Neurons and Mouse Models Pharmaceuticals (Basel, Switzerland)18: 2025 |
| PubMed ID: 40283960 |
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| Hendricks E, Quihuis AM, Hung ST, Chang J, Dorjsuren N, Der B, Staats KA, Shi Y, Sta Maria NS, Jacobs RE, Ichida JK, The C9ORF72 repeat expansion alters neurodevelopment Cell reports42:112983 2023 |
| PubMed ID: 37590144 |
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| Lai JD, Berlind JE, Fricklas G, Lie C, Urenda JP, Lam K, Sta Maria N, Jacobs R, Yu V, Zhao Z, Ichida JK, KCNJ2 inhibition mitigates mechanical injury in a human brain organoid model of traumatic brain injury Cell stem cell31:519-536.e8 2023 |
| PubMed ID: 38579683 |
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| Lee S, Jun YW, Linares GR, Butler B, Yuva-Adyemir Y, Moore J, Krishnan G, Ruiz-Juarez B, Santana M, Pons M, Silverman N, Weng Z, Ichida JK, Gao FB, Downregulation of Hsp90 and the antimicrobial peptide Mtk suppresses poly(GR)-induced neurotoxicity in C9ORF72-ALS/FTD Neuron111:1381-1390.e6 2022 |
| PubMed ID: 36931278 |
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| Liu Y, Huang Z, Liu H, Ji Z, Arora A, Cai D, Wang H, Liu M, Simko EAJ, Zhang Y, Periz G, Liu Z, Wang J, DNA-initiated epigenetic cascades driven by C9orf72 hexanucleotide repeat Neuron111:1205-1221.e9 2022 |
| PubMed ID: 36822200 |
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| Linares GR, Li Y, Chang WH, Rubin-Sigler J, Mendonca S, Hong S, Eoh Y, Guo W, Huang YH, Chang J, Tu S, Dorjsuren N, Santana M, Hung ST, Yu J, Perez J, Chickering M, Cheng TY, Huang CC, Lee SJ, Deng HJ, Bach KT, Gray K, Subramanyam V, Rosenfeld J, Alworth SV, Goodarzi H, Ichida JK, SYF2 suppression mitigates neurodegeneration in models of diverse forms of ALS Cell stem cell30:171-187.e14 2021 |
| PubMed ID: 36736291 |
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| Renton AE, Majounie E, Waite A, Simón-Sánchez J, Rollinson S, Gibbs JR, Schymick JC, Laaksovirta H, van Swieten JC, Myllykangas L, Kalimo H, Paetau A, Abramzon Y, Remes AM, Kaganovich A, Scholz SW, Duckworth J, Ding J, Harmer DW, Hernandez DG, Johnson JO, Mok K, Ryten M, Trabzuni D, Guerreiro RJ, Orrell RW, Neal J, Murray A, Pearson J, Jansen IE, Sondervan D, Seelaar H, Blake D, Young K, Halliwell N, Callister JB, Toulson G, Richardson A, Gerhard A, Snowden J, Mann D, Neary D, Nalls MA, Peuralinna T, Jansson L, Isoviita VM, Kaivorinne AL, Hölttä-Vuori M, Ikonen E, Sulkava R, Benatar M, Wuu J, Chiò A, Restagno G, Borghero G, Sabatelli M, ITALSGEN Consortium M, Heckerman D, Rogaeva E, Zinman L, Rothstein JD, Sendtner M, Drepper C, Eichler EE, Alkan C, Abdullaev Z, Pack SD, Dutra A, Pak E, Hardy J, Singleton A, Williams NM, Heutink P, Pickering-Brown S, Morris HR, Tienari PJ, Traynor BJ, A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD Neuron72:257-68 2011 |
| PubMed ID: 21944779 |
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