Description:
CEPH/UTAH PEDIGREE 1463
INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE I) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE]
CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19
INTERNATIONAL HAPMAP PROJECT - CEPH [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE]
NA CUSTOM SERVICE PLATE 01
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
CEPH
Repository Linkage Families
Pharmacogenetics
PIGI Consented Sample |
| 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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Country of Origin
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USA
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Family Member
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15
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Relation to Proband
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maternal grandfather
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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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| 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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| Remarks |
Maternal Grandfather; donor subject is homozygous for a single bp (G-to-A) transition at nucleotide 681 in exon 5 of the CYP2C19 gene (CYP2C19*2) which creates an aberrant splice site. The change altered the reading frame of the mRNA starting with amino acid 215 and produced a premature stop codon 20 amino acids downstream, resulting in a truncated, nonfunctional protein. Because of the aberrant splice site, a 40-bp deletion occurred at the beginning of exon 5 (from bp 643 to bp 682), resulting in deletion of amino acids 215 to 227. The truncated protein had 234 amino acids and would be catalytically inactive because it lacked the heme-binding region. |
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| PubMed ID: 39444160 |
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| PubMed ID: 38566115 |
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| Ryoo SB, Heo S, Lim Y, Lee W, Cho SH, Ahn J, Kang JK, Kim SY, Kim HP, Bang D, Kang SB, Yu CS, Oh ST, Park JW, Jeong SY, Kim YJ, Park KJ, Han SW, Kim TY, Personalised circulating tumour DNA assay with large-scale mutation coverage for sensitive minimal residual disease detection in colorectal cancer British journal of cancer50:e63 2022 |
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| PubMed ID: 35504890 |
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| PubMed ID: 34117247 |
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| PubMed ID: 33632895 |
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| Fløyel T, Meyerovich K, Prause MC, Kaur S, Frørup C, Mortensen HB, Nielsen LB, Pociot F, Cardozo AK, Størling J, SKAP2, a Candidate Gene for Type 1 Diabetes, Regulates ß-Cell Apoptosis and Glycaemic Control in Newly Diagnosed Patients Diabetes372:3586 2020 |
| PubMed ID: 33203694 |
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| Scott SA, Scott ER, Seki Y, Chen AJ, Wallsten R, Owusu Obeng A, Botton MR, Cody N, Shi H, Zhao G, Brake P, Nicoletti P, Yang Y, Delio M, Shi L, Kornreich R, Schadt EE, Edelmann L, Development and Analytical Validation of a 29 Gene Clinical Pharmacogenetic Genotyping Panel: Multi-Ethnic Allele and Copy Number Variant Detection Clinical and translational science14:204-213 2020 |
| PubMed ID: 32931151 |
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| Zeng Q, Leach NT, Zhou Z, Zhu H, Smith JA, Rosenblum LS, Kenyon A, Heim RA, Eisenberg M, Letovsky S, Okamoto PM, A customized scaffolds approach for the detection and phasing of complex variants by next-generation sequencing Scientific reports10:15060 2020 |
| PubMed ID: 32929119 |
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| Atkins A, Gupta P, Zhang BM, Tsai WS, Lucas J, Javey M, Vora A, Mei R, Detection of Circulating Tumor DNA with a Single-Molecule Sequencing Analysis Validated for Targeted and Immunotherapy Selection Molecular diagnosis & therapy10:15060 2019 |
| PubMed ID: 31209714 |
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| Bhagwate AV, Liu Y, Winham SJ, McDonough SJ, Stallings-Mann ML, Heinzen EP, Davila JI, Vierkant RA, Hoskin TL, Frost M, Carter JM, Radisky DC, Cunningham JM, Degnim AC, Wang C, Bioinformatics and DNA-extraction strategies to reliably detect genetic variants from FFPE breast tissue samples BMC genomics20:689 2019 |
| PubMed ID: 31477010 |
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| Chaubey A, Shenoy S, Mathur A, Ma Z, Valencia CA, Reddy Nallamilli BR, Szekeres E, Stansberry L, Liu R, Hegde MR, Low-Pass Genome Sequencing: Validation and Diagnostic Utility from 409 Clinical Cases of Low-Pass Genome Sequencing for the Detection of Copy Number Variants to Replace Constitutional Microarray The Journal of molecular diagnostics : JMD22:823-840 2019 |
| PubMed ID: 32344035 |
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| PubMed ID: 31754017 |
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| McClain L, Segreti AM, Nau S, Shaw P, Finegold DN, Pan LA, Peters DG, Chromosome 15q133 microduplications are associated with treatment refractory major depressive disorder Genes, brain, and behavior22:e12628 2019 |
| PubMed ID: 31828948 |
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| Shi X, Radhakrishnan S, Wen J, Chen JY, Chen J, Lam BA, Mills RE, Stranger BE, Lee C, Setlur SR, Association of CNVs with methylation variation NPJ genomic medicine5:41 2019 |
| PubMed ID: 33062306 |
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| Twesigomwe D, Wright GEB, Drögemöller BI, da Rocha J, Lombard Z, Hazelhurst S, A systematic comparison of pharmacogene star allele calling bioinformatics algorithms: a focus on NPJ genomic medicine5:30 2019 |
| PubMed ID: 32789024 |
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| PubMed ID: 31530810 |
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| PubMed ID: 31375681 |
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| PubMed ID: 31375807 |
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| PubMed ID: 22785314 |
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