Description:
CEPH/UTAH PEDIGREE 1408
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
CEPH
Repository Linkage Families |
| Quantity |
25 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
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White
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Ethnicity
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UTAH/MORMON
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Family Member
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3
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Relation to Proband
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daughter
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Confirmation
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Clinical summary/Case history
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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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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| García-Rincón D, Díaz-Alonso J, Paraíso-Luna J, Ortega Z, Aguareles J, de Salas-Quiroga A, Jou C, de Prada I, Martínez-Cerdeño V, Aronica E, Guzmán M, Pérez-Jiménez MÁ, Galve-Roperh I, Contribution of Altered Endocannabinoid System to Overactive mTORC1 Signaling in Focal Cortical Dysplasia Frontiers in pharmacology9:1508 2018 |
| PubMed ID: 30687088 |
| |
| Nieto-Fontarigo JJ, Salgado FJ, San-José ME, Cruz MJ, Casas-Fernández A, Gómez-Conde MJ, Valdés-Cuadrado L, García-González MÁ, Arias P, Nogueira M, González-Barcala FJ, The CD14 (-159 C/T) SNP is associated with sCD14 levels and allergic asthma, but not with CD14 expression on monocytes Scientific reports8:4147 2017 |
| PubMed ID: 29515128 |
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| Norman PJ, Cook MA, Carey BS, Carrington CV, Verity DH, Hameed K, Ramdath DD, Chandanayingyong D, Leppert M, Stephens HA, Vaughan RW, SNP haplotypes and allele frequencies show evidence for disruptive and balancing selection in the human leukocyte receptor complex Immunogenetics56:225-37 2004 |
| PubMed ID: 15185041 |
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| Hall MA, Norman PJ, Thiel B, Tiwari H, Peiffer A, Vaughan RW, Prescott S, Leppert M, Schork NJ, Lanchbury JS, Quantitative trait loci on chromosomes 1, 2, 3, 4, 8, 9, 11, 12, and 18 control variation in levels of T and B lymphocyte subpopulations. Am J Hum Genet70(5):1172-82 2002 |
| PubMed ID: 11951176 |
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