Description:
ASYMPTOMATIC OR UNDIAGNOSED AND GENETICALLY RELATED TO AN AFFECTED INDIVIDUAL
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Repository
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NINDS Repository
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| Subcollection |
Motor Neuron Disease |
| Quantity |
20 µg |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
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Peripheral vein
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|
Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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|
Transformant
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Epstein-Barr Virus
|
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Sample Source
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DNA from LCL
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|
Race
|
White
|
|
Subject Type
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family with at least 3 members, including 1 proband, not a trio
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Family Type
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MULTIGENERATIONAL FAMILIES - ONE AFFECTED
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|
Ethnicity
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Not Hispanic/Latino
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Country of Origin
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USA
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|
Family Member
|
10
|
|
Family History
|
Y
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Relation to Proband
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niece
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|
Species
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Homo sapiens
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|
Common Name
|
Human
|
| Gene |
C9ORF72 |
| Chromosomal Location |
9p21 |
| Allelic Variant 1 |
614260.0001; FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS |
| Identified Mutation |
(GGGGCC)n EXPANSION;
|
| 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 |
| |
| Petrovick MS, Boettcher T, Fremont-Smith P, Peragallo C, Ricke DO, Watkins J, Schwoebel E, Analysis of complex DNA mixtures using massively parallel sequencing of SNPs with low minor allele frequencies Forensic science international Genetics46:102234 2019 |
| PubMed ID: 32018060 |
| |
| 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 |
| Split Ratio (Frequency) |
1:3 (4 Days) |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
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