Repository NIGMS Human Genetic Cell Repository
Subcollection CEPH
Repository Linkage Families
Pharmacogenetics
PIGI Consented Sample
Quantity 50 µg
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Race Caucasian
Ethnicity UTAH/MORMON
Country of Origin USA
Family Member 2
Relation to Proband mother
Confirmation Clinical summary/Case history
ISCN 46,XX[23].arr[hg19] 9p13.1(38,787,480-40,911,212)x3
Species Homo sapiens
Common Name Human
Remarks Mother; donor subject has 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.
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 
Remark Mother; donor subject has 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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Lincoln SE, Truty R, Lin CF, Zook JM, Paul J, Ramey VH, Salit M, Rehm HL, Nussbaum RL, Lebo MS, A Rigorous Interlaboratory Examination of the Need to Confirm Next-Generation Sequencing-Detected Variants with an Orthogonal Method in Clinical Genetic Testing The Journal of molecular diagnostics : JMD9:248-282 2018
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Pliner HA1, Packer JS1, McFaline-Figueroa JL1, Cusanovich DA1, Daza RM1, Aghamirzaie D1, Srivatsan S1, Qiu X2, Jackson D1, Minkina A1, Adey AC3, Steemers FJ4, Shendure J5, Trapnell C6., Cicero Predicts cis-Regulatory DNA Interactions from Single-Cell Chromatin Accessibility Data Molecular Cell18:1525-1578 2018
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Yeeok Kang, Seong-Hyeuk Nam, Kyung Sun Park, Yoonjung Kim, Jong-Won Kim, Eunjung Lee, Jung Min Ko, Kyung-A Lee and Inho ParkEmail, DeviCNV: detection and visualization of exon-level copy number variants in targeted next-generation sequencing data BMC Bioinformatics19:2615-2642 2018
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Michael J. Keogh, Wei Wei, Juvid Aryaman, Lauren Walker, Jelle van den Ameele, Jon Coxhead, Ian Wilson, Matthew Bashton, Jon Beck, John West, Richard Chen, Christian Haudenschild, Gabor Bartha, Shujun Luo, Chris M. Morris, Nick S. Jones, Johannes Attems & Patrick F. Chinnery, High prevalence of focal and multi-focal somatic genetic variants in the human brain Nature Communications9:4257 2018
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Stephen Bruinsma, Joshua Burgess, Daniel Schlingman, Agata Czyz, Natalie Morrell, Catherine Ballenger, Heather Meinholz, Lee Brady, Anupama Khanna, Lindsay Freeberg, Rosamond G Jackson, Pascale Mathonet, Susan C Verity, Andrew F Slatter, Rooz Golshani, Haiying Grunenwald, Gary P Schroth and Niall A Gormley, Bead-linked transposomes enable a normalization-free workflow for NGS library preparation BMC Genomics19:722 2018
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Andrew M. Gross PhD, Subramanian S. Ajay PhD, Vani Rajan MS, Carolyn Brown CGC, Krista Bluske PhD, Nicole J. Burns MS, Aditi Chawla PhD, Alison J. Coffey PhD, Alka Malhotra PhD, Alicia Scocchia MS CGC, Erin Thorpe MS CGC, Natasa Dzidic MS, Karine Hovanes PhD FACMG, Trilochan Sahoo MD FACMG, Egor Dolzhenko PhD, Bryan Lajoie PhD, Amirah Khouzam MS CGC, Shimul Chowdhury PhD FACMG, John Belmont MD PhD, Eric Roller PhD, Sergii Ivakhno PhD, Stephen Tanner PhD, Julia McEachern PA MHS, Tina Hambuch PhD FACMG, Michael Eberle PhD, R. Tanner Hagelstrom PhD FACMG, David R. Bentley PhD, Denise L. Perry MS CGC & Ryan J. Taft PhD, Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease Genetics in Medicine19:722 2018
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Blombery P, Jones K, Doig K, Ryland G, McBean M, Thompson E, Yannakou CK, Westerman D, Sensitive NPM1 Mutation Quantitation in Acute Myeloid Leukemia Using Ultradeep Next-Generation Sequencing in the Diagnostic Laboratory Archives of pathology & laboratory medicine19:722 2018
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Preissl S, Fang R, Huang H, Zhao Y, Raviram R, Gorkin DU, Zhang Y, Sos BC, Afzal V, Dickel DE, Kuan S, Visel A, Pennacchio LA, Zhang K, Ren B, Single-nucleus analysis of accessible chromatin in developing mouse forebrain reveals cell-type-specific transcriptional regulation Nature neuroscience21:432-439 2017
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Shigemizu D, Miya F, Akiyama S, Okuda S, Boroevich KA, Fujimoto A, Nakagawa H, Ozaki K, Niida S, Kanemura Y, Okamoto N, Saitoh S, Kato M, Yamasaki M, Matsunaga T, Mutai H, Kosaki K, Tsunoda T, IMSindel: An accurate intermediate-size indel detection tool incorporating de novo assembly and gapped global-local alignment with split read analysis Scientific reports8:5608 2017
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No data is available
Split Ratio 1:4
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
Medium Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not Inactivated
Substrate None specified
Subcultivation Method dilution - add fresh medium