NDPT090
96 WELL PLATE OF DNA SAMPLES
Description:
NEUROLOGICALLY NORMAL WHITE CONTROL PANEL
Aliquot Size:
5 µg each
Sex:
Males: 32 Females: 59
Brief Description:
This panel contains 5 micrograms of DNA from 91 unique and unrelated White individuals from North America without neurological disorders. Of these, 32 are males and 59 are females, with an age at collection ranging from 19-38 years. Data collected on these subjects consisted of Control Clinical Data Elements as outlined in the Coriell NINDS Genetics Repository guidelines. These data include a detailed medical and family history. None have a history of neurological illness in themselves, nor a first degree relative with a known primary neurological disorder. A more detailed description is also available. NDPT090 replaces NDPT019 and has the same samples except the following samples have been removed: ND08964, ND09780, ND10058, ND10280, ND10481, ND10495, ND10867, ND08986, ND10343, ND09727, ND02433, ND09305, ND09893, ND10299, ND08500, ND08501, and ND9964. These have been replaced with: ND11622, ND12953, ND01057, ND10601, ND11061, ND12595, ND13305, ND13333, ND14032, ND14128, ND14298, ND14003, ND11191, ND14519, ND12146, and ND11298. As an internal control, ND14003 appears twice on the panel, in B01 and well D11.
Clinical Data:
An Excel file with all clinical data is available for download.
Plate Layout:
The specific position on the plates has been optimized to reduce any possible errors in sample identity during the genotyping process.
Estrada K, Whelan CW, Zhao F, Bronson P, Handsaker RE, Sun C, Carulli JP, Harris T, Ransohoff RM, McCarroll SA, Day-Williams AG, Greenberg BM, MacArthur DG, A whole-genome sequence study identifies genetic risk factors for neuromyelitis optica Nature communications9:1929 2018 |
PubMed ID: 29769526 |
|
Phelps IG, Dempsey JC, Grout ME, Isabella CR, Tully HM, Doherty D, Bachmann-Gagescu R, Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity Genetics in medicine : official journal of the American College of Medical Genetics9:1929 2017 |
PubMed ID: 28771248 |
|
Slaats GG, Isabella CR, Kroes HY, Dempsey JC, Gremmels H, Monroe GR, Phelps IG, Duran KJ, Adkins J, Kumar SA, Knutzen DM, Knoers NV, Mendelsohn NJ, Neubauer D, Mastroyianni SD, Vogt J, Worgan L, Karp N, Bowdin S, Glass IA, Parisi MA, Otto EA, Johnson CA, Hildebrandt F, van Haaften G, Giles RH, Doherty D, MKS1 regulates ciliary INPP5E levels in Joubert syndrome Journal of medical genetics53:62-72 2015 |
PubMed ID: 26490104 |
|
Vester A, Velez-Ruiz G, McLaughlin HM, NISC Comparative Sequencing Program HM, Lupski JR, Talbot K, Vance JM, Züchner S, Roda RH, Fischbeck KH, Biesecker LG, Nicholson G, Beg AA, Antonellis A, A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo Human mutation34:191-9 2012 |
PubMed ID: 22930593 |
|
Lee T, Li YR, Chesi A, Hart MP, Ramos D, Jethava N, Hosangadi D, Epstein J, Hodges B, Bonini NM, Gitler AD, Evaluating the prevalence of polyglutamine repeat expansions in amyotrophic lateral sclerosis Neurology76:2062-5 2011 |
PubMed ID: 21562248 |
|
|