Description:
CEPH/UTAH PEDIGREE 1362
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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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5
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Relation to Proband
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son
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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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| Gago-Dominguez M, Sobrino T, Torres-Español M, Calaza M, Rodríguez-Castro E, Campos F, Redondo CM, Castillo J, Carracedo Á, Obesity-related genetic determinants of stroke Brain communications3:fcab069 2020 |
| PubMed ID: 34550115 |
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| Gil-Varea E, Fedetz M, Eixarch H, Spataro N, Villar LM, Urcelay E, Saiz A, Fernández Ó, Leyva L, Ramió-Torrentà L, Vandenbroeck K, Otaegui D, Castillo-Triviño T, Izquierdo G, Malhotra S, Bosch E, Navarro A, Alcina A, Montalban X, Matesanz F, Comabella M, A New Risk Variant for Multiple Sclerosis at 11q233 Journal of clinical medicine9:fcab069 2020 |
| PubMed ID: 32110891 |
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| Agra RM, Gago-Dominguez M, Paradela-Dobarro B, Torres-Español M, Alvarez L, Fernandez-Trasancos A, Varela-Roman A, Calaza M, Eiras S, Alvarez E, Carracedo A, Gonzalez-Juanatey JR, Obesity-Related Genetic Determinants of Heart Failure Prognosis Cardiovascular drugs and therapy9:fcab069 2019 |
| PubMed ID: 31209632 |
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| Brunoni AR, Carracedo A, Amigo OM, Pellicer AL, Talib L, Carvalho AF, Lotufo PA, Benseñor IM, Gattaz W, Cappi C, Association of BDNF, HTR2A, TPH1, SLC6A4, and COMT polymorphisms with tDCS and escitalopram efficacy: ancillary analysis of a double-blind, placebo-controlled trial Revista brasileira de psiquiatria (Sao Paulo, Brazil : 1999)9:fcab069 2019 |
| PubMed ID: 31721892 |
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| Jiménez-Sousa MÁ, Gómez-Moreno AZ, Pineda-Tenor D, Sánchez-Ruano JJ, Artaza-Varasa T, Martin-Vicente M, Fernández-Rodríguez A, Martínez I, Resino S, Impact of Biomolecules9:fcab069 2019 |
| PubMed ID: 30970632 |
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| Pospiech E, Chen Y, Kukla-Bartoszek M, Breslin K, Aliferi A, Andersen JD, Ballard D, Chaitanya L, Freire-Aradas A, van der Gaag KJ, Girón-Santamaría L, Gross TE, Gysi M, Huber G, Mosquera-Miguel A, Muralidharan C, Skowron M, Carracedo Á, Haas C, Morling N, Parson W, Phillips C, Schneider PM, Sijen T, Syndercombe-Court D, Vennemann M, Wu S, Xu S, Jin L, Wang S, Zhu G, Martin NG, Medland SE, Branicki W, Walsh S, Liu F, Kayser M, EUROFORGEN-NoE Consortium M, Towards broadening Forensic DNA Phenotyping beyond pigmentation: Improving the prediction of head hair shape from DNA Forensic science international Genetics37:241-251 2018 |
| PubMed ID: 30268682 |
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| Numanagic I, Malikic S, Ford M, Qin X, Toji L, Radovich M, Skaar TC, Pratt VM, Berger B, Scherer S, Sahinalp SC, Allelic decomposition and exact genotyping of highly polymorphic and structurally variant genes Nature communications9:828 2017 |
| PubMed ID: 29483503 |
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| Kadota M, Yang HH, Hu N, Wang C, Hu Y, Taylor PR, Buetow KH, Lee MP, Allele-specific chromatin immunoprecipitation studies show genetic influence on chromatin state in human genome PLoS genetics3:e81 2006 |
| PubMed ID: 17511522 |
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| Pant PV, Tao H, Beilharz EJ, Ballinger DG, Cox DR, Frazer KA, Analysis of allelic differential expression in human white blood cells Genome research16:331-9 2006 |
| PubMed ID: 16467561 |
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| Miretti MM, Walsh EC, Ke X, Delgado M, Griffiths M, Hunt S, Morrison J, Whittaker P, Lander ES, Cardon LR, Bentley DR, Rioux JD, Beck S, Deloukas P, A high-resolution linkage-disequilibrium map of the human major histocompatibility complex and first generation of tag single-nucleotide polymorphisms. Am J Hum Genet76(4):634-46 2005 |
| PubMed ID: 15747258 |
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| Bersaglieri T, Sabeti PC, Patterson N, Vanderploeg T, Schaffner SF, Drake JA, Rhodes M, Reich DE, Hirschhorn JN, Genetic signatures of strong recent positive selection at the lactase gene. Am J Hum Genet74(6):1111-20 2004 |
| PubMed ID: 15114531 |
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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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| Lovmar L, Fredriksson M, Liljedahl U, Sigurdsson S, Syvanen AC, Quantitative evaluation by minisequencing and microarrays reveals accurate multiplexed SNP genotyping of whole genome amplified DNA. Nucleic Acids Res31(21):e129 2003 |
| PubMed ID: 14576329 |
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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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| Brzustowicz LM, Gardner JP, Hopp L, Jeanclos E, Ott J, Yang XY, Fekete Z,Aviv A, Linkage analysis using platelet-activating factor Ca2+ response in transformed
lymphoblasts. Hypertension29(1 Pt 2):158-64 1997 |
| PubMed ID: 9039096 |
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| Attwood J, Chiano M, Collins A, Donis-Keller H, Dracopoli N, Fountain J, Falk C, Goudie D, Gusella J, Haines J, et al, CEPH consortium Map of chromosome 9. Genomics19:203-14 1994 |
| PubMed ID: 8188250 |
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