Description:
CEPH/UTAH PEDIGREE 1333
SNP500 PANEL
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
CEPH
Repository Linkage Families
Pharmacogenetics |
| 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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2
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Relation to Proband
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mother
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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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| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a negative result with a primer for Yq11, DYS227. |
| |
| Fairbanks DJ, Fairbanks AD, Ogden TH, Parker GJ, Maughan PJ, NANOGP8: evolution of a human-specific retro-oncogene G3 (Bethesda, Md)2:1447-57 2012 |
| PubMed ID: 23173096 |
| |
| Tynan JA, Mahboubi P, Cagasan LL, van den Boom D, Ehrich M, Oeth P, Restriction enzyme-mediated enhanced detection of circulating cell-free fetal DNA in maternal plasma The Journal of molecular diagnostics : JMD13:382-9 2010 |
| PubMed ID: 21704271 |
| |
| Bergen AW, Baccarelli A, McDaniel TK, Kuhn K, Pfeiffer R, Kakol J, Bender P, Jacobs K, Packer B, Chanock SJ, Yeager M, Cis sequence effects on gene expression BMC genomics8:296 2007 |
| PubMed ID: 17727713 |
| |
| 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 |
| |
| 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 |
| |
| Cheung VG, Conlin LK, Weber TM, Arcaro M, Jen KY, Morley M, Spielman RS, Natural variation in human gene expression assessed in lymphoblastoid cells. Nat Genet33(3):422-5 2003 |
| PubMed ID: 12567189 |
| |
| Haque KA, Pfeiffer RM, Beerman MB, Struewing JP, Chanock SJ, Bergen AW, Performance of high-throughput DNA quantification methods. BMC Biotechnol3(1):20 2003 |
| PubMed ID: 14583097 |
| |
| Rutter JL, Smith AM, Dávila MR, Sigurdson AJ, Giusti RM, Pineda MA, Doody MM, Tucker MA, Greene MH, Zhang J, Struewing JP, Mutational analysis of the BRCA1-interacting genes ZNF350/ZBRK1 and BRIP1/BACH1 among BRCA1 and BRCA2-negative probands from breast-ovarian cancer families and among early-onset breast cancer cases and reference individuals Human mutation22:121-8 2003 |
| PubMed ID: 12872252 |
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| Watts JA, Morley M, Burdick JT, Fiori JL, Ewens WJ, Spielman RS, Cheung VG, Gene expression phenotype in heterozygous carriers of ataxia telangiectasia. Am J Hum Genet71(4):791-800 2002 |
| PubMed ID: 12226795 |
| |
| Luberto C, Yoo DS, Suidan HS, Bartoli GM, Hannun YA, Chen J, Iannone MA, Li MS, Taylor JD, Rivers P, Nelsen AJ, Slentz-Kesler KA, Roses A, Weiner MP, A microsphere-based assay for multiplexed single nucleotide polymorphism analysis using single base chain extension. Genome Res10:549-57 2000 |
| PubMed ID: 10779497 |
| |
| Martin ER,Lai EH,Gilbert JR,Rogala AR,Afshari AJ,Riley J,Finch KL,Stevens JF,Livak KJ,Slotterbeck BD,Slifer SH,Warren LL,Conneally PM,Schmechel DE,Purvis I,Pericak-Vance MA,Roses AD,Vance J, SNPing away at complex diseases: analysis of single-nucleotide polymorphisms around APOE in alzheimer disease [In Process Citation] Am J Hum Genet67:383-94 2000 |
| PubMed ID: 10869235 |
| |
| Bowman ED, Bromeke B, Lensing W, Shields PG, Apolipoprotein E allelic frequency in elderly smokers. Am J Med Genet76(1):32-6 1998 |
| PubMed ID: 9508061 |
| |
| 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 |
| |
| Abels S, Erdmann J, Nothen MM, Dinucleotide repeat polymorphism at the D18S365 locus. Hum Mol Genet2:1747 1993 |
| PubMed ID: 8268941 |
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| Pata I, Metspalu A, A dinucleotide repeat polymorphism at the ribosomal protein S6 (RPS6) gene. Hum Mol Genet2:1749 1993 |
| PubMed ID: 8268945 |
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| Goldman D, O'Brien SJ, Lucas-Derse S, Dean M, Linkage mapping of human polymorphic proteins identified by two-dimensional electrophoresis. Genomics11:875-84 1991 |
| PubMed ID: 1686020 |
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| Greig GM, Parikh S, George J, Powers VE, Willard HF, Molecular cytogenetics of alpha satellite DNA from chromosome 12: fluorescence in situ hybridization and description of DNA and array length polymorphisms. Cytogenet Cell Genet56:144-8 1991 |
| PubMed ID: 1675980 |
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| Greig GM, England SB, Bedford HM, Willard HF, Chromosome-specific alpha satellite DNA from the centromere of human chromosome 16. Am J Hum Genet45:862-72 1989 |
| PubMed ID: 2573999 |
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| Modi WS, Levine MA, Seuanez HN, Dean M, O'Brien SJ, The human chromogranin A gene: chromosome assignment and RFLP analysis. Am J Hum Genet45:814-8 1989 |
| PubMed ID: 2573279 |
| |
| Nicholls RD, Knoll JH, Glatt K, Hersh JH, Brewster TD, Graham JM Jr, Wurster-Hill D, Wharton R, Latt SA, Restriction fragment length polymorphisms within proximal 15q and their use in molecular cytogenetics and the Prader-Willi syndrome. Am J Med Genet33:66-77 1989 |
| PubMed ID: 2568752 |
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| Board PG, Chapple R, Coggan M, Haplotypes of the coagulation factor XIII A subunit locus in normal and deficient subjects. Am J Hum Genet42:712-7 1988 |
| PubMed ID: 2895980 |
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| Bufton L, Bruns GA, Magenis RE, Tomar D, Shaw D, Brook D, Litt M, Four restriction fragment length polymorphisms revealed by probes from a single cosmid map to chromosome 19. Am J Hum Genet38:447-60 1986 |
| PubMed ID: 3010711 |
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| Buroker NE, Magenis RE, Weliky K, Bruns G, Litt M, Four restriction fragment length polymorphisms revealed by probes from a single cosmid map to human chromosome 12q. Hum Genet72:86-94 1986 |
| PubMed ID: 3002956 |
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| White R, Leppert M, Bishop DT, Barker D, Berkowitz J, Brown C, Callahan P, Holm T, Jerominski L, Construction of linkage maps with DNA markers for human chromosomes. Nature313:101-5 1985 |
| PubMed ID: 2981412 |
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