Description:
AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1
ALS PANEL; UPPER-LIMB ONSET; DEFINITE AND PROBABLE
ALS PANEL; UPPER-LIMB ONSET; DEFINITE AND PROBABLE ALS
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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 |
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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
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|
Subject Type
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case-spouse
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Family Type
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NUCLEAR 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
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1
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|
Family History
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N
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Relation to Proband
|
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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| Abramzon Y, Johnson JO, Scholz SW, Taylor JP, Brunetti M, Calvo A, Mandrioli J, Benatar M, Mora G, Restagno G, Chiò A, Traynor BJ, Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis Neurobiology of aging33:2231.e1-6 2012 |
| PubMed ID: 22572540 |
| |
| Rademakers R, Baker M, Gass J, Adamson J, Huey ED, Momeni P, Spina S, Coppola G, Karydas AM, Stewart H, Johnson N, Hsiung GY, Kelley B, Kuntz K, Steinbart E, Wood EM, Yu CE, Josephs K, Sorenson E, Womack KB, Weintraub S, Pickering-Brown SM, Schofield PR, Brooks WS, Van Deerlin VM, Snowden J, Clark CM, Kertesz A, Boylan K, Ghetti B, Neary D, Schellenberg GD, Beach TG, Mesulam M, Mann D, Grafman J, Mackenzie IR, Feldman H, Bird T, Petersen R, Knopman D, Boeve B, Geschwind DH, Miller B, Wszolek Z, Lippa C, Bigio EH, Dickson D, Graff-Radford N, Hutton M, Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C-->T (Arg493X) mutation: an international initiative Lancet neurology6:857-68 2007 |
| PubMed ID: 17826340 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| 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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