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ACMG 59 GENES LIST
ACMG 59 Genes. The American College of Medical Genetics and Genomics (ACMG) has compiled a list of 59 genes, for which specific mutations are known to be causative of disorders with defined phenotypes that are clinically actionable by an accepted intervention. THE HUMAN REFERENCE GENETIC MATERIAL REPOSITORY CONTACT US. CUSTOMER SERVICE customerservice@coriell.org (800) 752-3805 (856) 757-4848 Coriell Institute for Medical ResearchNA12877 - CORIELL
Ormond C, Ryan NM, Corvin A, Heron EA, Converting single nucleotide variants between genome builds: from cautionary tale to solution Briefings in bioinformatics: 2020: PubMed ID: 33822888 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 THE ROLE OF GENETICS IN OPIOID USE DISORDER The Role of Genetics in Opioid Use Disorder. Scientists have known for some time that a person's DNA can affect the way they react to certain drugs. A person may have a genetic variant or variants which can cause them to metabolize a drug much more quickly than normal or might instead cause a slow metabolism of a particular drug.NA00232 - CORIELL
Common Name. Human. Remarks. Progressive muscular atrophy; absent deep tendon reflexes; abnormal EMG; donor subject has 2 copies of the SMN2 gene (data from several sources including Stabley et al. 2015, PMID 26247043) and is homozygous for deletion of exons 7GM24385 - CORIELL
PubMed ID: 29959024. 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 : JMD18:1525-15782018.
MTA (ASSURANCE FORM) SIGNATORY GUIDELINES MTA (Assurance Form) Signatory Guidelines. MTA (Assurance Form) All materials require material transfer agreements. The customer will find these online under the appropriate collection from which they are requesting the samples. You will also be notified during the checkoutprocess of
OTHER DRUGS AFFECTED BY CYP2C19 The United States Food and Drug Administration (FDA) recognizes the following drugs as being affected by the CYP2C19 gene: CORIELL INSTITUTEBIOBANKRESEARCHSERVICESBROWSEORDERINGDONATE CONTACT US. CUSTOMER SERVICE customerservice@coriell.org (800) 752-3805 (856) 757-4848 Coriell Institute for Medical Research 403 Haddon Avenue Camden, NJ 08103, USA (856) 966-7377 ORDERING CELL CULTURES AND DNA SAMPLES The fee for a 50 µg sample of DNA isolated from cell cultures is $55. The fee for specific 2µg samples of DNA offered as 1000 Genomes Project panels is $900 for panels with 99 or less samples and $1000 for panels with 100 or more samples (see pricing page for MGP panels). Also see NHGRI Sample Repository DNA and cell culture pricing policyACMG 59 GENES LIST
ACMG 59 Genes. The American College of Medical Genetics and Genomics (ACMG) has compiled a list of 59 genes, for which specific mutations are known to be causative of disorders with defined phenotypes that are clinically actionable by an accepted intervention. THE HUMAN REFERENCE GENETIC MATERIAL REPOSITORY CONTACT US. CUSTOMER SERVICE customerservice@coriell.org (800) 752-3805 (856) 757-4848 Coriell Institute for Medical ResearchNA12877 - CORIELL
Ormond C, Ryan NM, Corvin A, Heron EA, Converting single nucleotide variants between genome builds: from cautionary tale to solution Briefings in bioinformatics: 2020: PubMed ID: 33822888 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 THE ROLE OF GENETICS IN OPIOID USE DISORDER The Role of Genetics in Opioid Use Disorder. Scientists have known for some time that a person's DNA can affect the way they react to certain drugs. A person may have a genetic variant or variants which can cause them to metabolize a drug much more quickly than normal or might instead cause a slow metabolism of a particular drug.NA00232 - CORIELL
Common Name. Human. Remarks. Progressive muscular atrophy; absent deep tendon reflexes; abnormal EMG; donor subject has 2 copies of the SMN2 gene (data from several sources including Stabley et al. 2015, PMID 26247043) and is homozygous for deletion of exons 7GM24385 - CORIELL
PubMed ID: 29959024. 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 : JMD18:1525-15782018.
MTA (ASSURANCE FORM) SIGNATORY GUIDELINES MTA (Assurance Form) Signatory Guidelines. MTA (Assurance Form) All materials require material transfer agreements. The customer will find these online under the appropriate collection from which they are requesting the samples. You will also be notified during the checkoutprocess of
OTHER DRUGS AFFECTED BY CYP2C19 The United States Food and Drug Administration (FDA) recognizes the following drugs as being affected by the CYP2C19 gene:ACCOUNT LOG-IN
CONTACT US. CUSTOMER SERVICE customerservice@coriell.org (800) 752-3805 (856) 757-4848 Coriell Institute for Medical Research THE CORIELL INSTITUTE Services at Coriell . Having set the gold standard for biobanking around to globe, we at Coriell are experts in every step of the pipeline. We establish immortalized cell lines, run those lines through extensive quality control protocols, extract DNA from them, reprogram these cells into state-of-the-art induced pluripotent stem cells, freeze them and store them in our long term cryogenicHOW TO ORDER
How to Order Samples from the NIGMS Repository. Pricing and Shipping Fees. FREE Samples in Exchange For Molecular Characterization Data. Cell Culture and DNA Quality Control. Ordering Forms. Close. Material Transfer Agreement for Human Cell Lines, Somatic CellCORIELL INSTITUTE
Repository: NHGRI Sample Repository for Human Genetic Research (4); Collection: Human Variation (3); Product: 96 well plate of DNA samples (1); DNA (1); LCL (1); human variation panel (1)CONTROLS - CORIELL
Controls. Clinical and genetic information from control subjects serves as a standard to compare corresponding data from disease subjects. Genetic differences between control groups and disease groups help researchers discover causes for a particular disease. Both Population Controls and unaffected relatives of affected individualsare banked
IPSC LICENSES AND LIMITED USE Researchers purchasing hiPSCs from the NIGMS Repository are responsible for any limited use label licenses (LULLs) applicable to the cell line purchased. It is the researcher’s responsibility to investigate whether the intended use of the cell line requires him/her to obtain commercial rights to the technology. Below are links toLULLs which
BIOINFORMATICS RESEARCH EXPERIENCE Bioinformatics Research Experience. The Bioinformatics Research Experience at the Coriell Institute for Medical Research is a four-week research training program for undergraduate students interested in learning scientific biological data analysis. During their time with Coriell, students will learn: General and biological data analysis using the R languageNA12877 - CORIELL
Ormond C, Ryan NM, Corvin A, Heron EA, Converting single nucleotide variants between genome builds: from cautionary tale to solution Briefings in bioinformatics: 2020: PubMed ID: 33822888 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 2019GM03813 - CORIELL
Chem Biol11 (11):1495-503 2004. Lunn MR, Root DE, Martino AM, Flaherty SP, Kelley BP, Coovert DD, Burghes AH, Man NT, Morris GE, Zhou J, Androphy EJ, Sumner CJ, Stockwell BR, Indoprofen upregulates the survival motor neuron protein through a cyclooxygenase-independent mechanism. Chem Biol11 (11):1489-93 2004.GM25256 - CORIELL
Remark: Induced pluripotent stem cell line derived from adult skin (leg) fibroblasts; subject clinically normal; wild-type; FISH test: 46, XY. This iPSC line (WTC-11) was submitted by Dr. Bruce R. Conklin (Gladstone Institute of Cardiovascular Disease, UCSF) and may serve as a control for diseased iPSCs GM25267 (LQT2) iPSC and GM25305 (LQT3); also available is a collection of fluorescently CORIELL INSTITUTEBIOBANKRESEARCHSERVICESBROWSEORDERINGDONATE CONTACT US. CUSTOMER SERVICE customerservice@coriell.org (800) 752-3805 (856) 757-4848 Coriell Institute for Medical Research 403 Haddon Avenue Camden, NJ 08103, USA (856) 966-7377ACMG 59 GENES LIST
ACMG 59 Genes. The American College of Medical Genetics and Genomics (ACMG) has compiled a list of 59 genes, for which specific mutations are known to be causative of disorders with defined phenotypes that are clinically actionable by an accepted intervention. ORDERING CELL CULTURES AND DNA SAMPLES The fee for a 50 µg sample of DNA isolated from cell cultures is $55. The fee for specific 2µg samples of DNA offered as 1000 Genomes Project panels is $900 for panels with 99 or less samples and $1000 for panels with 100 or more samples (see pricing page for MGP panels). Also see NHGRI Sample Repository DNA and cell culture pricing policy THE ROLE OF GENETICS IN OPIOID USE DISORDER The Role of Genetics in Opioid Use Disorder. Scientists have known for some time that a person's DNA can affect the way they react to certain drugs. A person may have a genetic variant or variants which can cause them to metabolize a drug much more quickly than normal or might instead cause a slow metabolism of a particular drug. FAQ - PASSAGE VS PDL - CORIELL FAQ - Passage vs PDL. FAQ - Passage vs PDL. Passage refers to the transfer or subculture of cells from one culture vessel to another. Usually, but not necessarily, this implies subdivisions of a proliferating cell population enabling propagation of a cell line. Thus "passage number" is the number of times a culture has beensubcultured.
FAQ - FIBROBLAST CELL CULTURES - CORIELL CONTACT US. CUSTOMER SERVICE customerservice@coriell.org (800) 752-3805 (856) 757-4848 Coriell Institute for Medical ResearchGM24385 - CORIELL
PubMed ID: 29959024. 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 : JMD18:1525-15782018.
NA12878 - CORIELL
Nature487 (7406):190-5 2012. PubMed ID: 22785314. Shen P, Wang W, Krishnakumar S, Palm C, Chi AK, Enns GM, Davis RW, Speed TP, Mindrinos MN, Scharfe C, High-quality DNA sequence capture of 524 disease candidate genes Proceedings of the National Academy of Sciences of the United States of America108:6549-54 2011. FIBROBLAST CULTURE FAQ WHAT MEDIUM SHOULD BE USED FOR Fibroblast Culture FAQ Form 1302-16 Rev H-113017 Page 3 of 4 T25 4-10 ml. 2.0 x 105 – 6.0 x 105. T75 . 15-25 ml . 8.5 x 10. 5 – 1.3 x 10. 6. T175 . 35-50 ml. 1.8 x 10. 6 – 2.4 x 106. 4 Note: The chart above is to be used as a guideline only. Basic seeding rule is 1.0-1.4x 10
FAQ - IS HEAT INACTIVATION OF FETAL BOVINE SERUM NECESSARY Since we have changed to fetal bovine serum, we find that heat inactivation is not necessary for most cell lines. Occasionally we do find a differentiated cell line that grows better in heat inactivated serum, but for most lymphoblast and fibroblast lines it does not seem to make a difference whether the serum is heat inactivated or not. CORIELL INSTITUTEBIOBANKRESEARCHSERVICESBROWSEORDERINGDONATE CONTACT US. CUSTOMER SERVICE customerservice@coriell.org (800) 752-3805 (856) 757-4848 Coriell Institute for Medical Research 403 Haddon Avenue Camden, NJ 08103, USA (856) 966-7377ACMG 59 GENES LIST
ACMG 59 Genes. The American College of Medical Genetics and Genomics (ACMG) has compiled a list of 59 genes, for which specific mutations are known to be causative of disorders with defined phenotypes that are clinically actionable by an accepted intervention. ORDERING CELL CULTURES AND DNA SAMPLES The fee for a 50 µg sample of DNA isolated from cell cultures is $55. The fee for specific 2µg samples of DNA offered as 1000 Genomes Project panels is $900 for panels with 99 or less samples and $1000 for panels with 100 or more samples (see pricing page for MGP panels). Also see NHGRI Sample Repository DNA and cell culture pricing policy THE ROLE OF GENETICS IN OPIOID USE DISORDER The Role of Genetics in Opioid Use Disorder. Scientists have known for some time that a person's DNA can affect the way they react to certain drugs. A person may have a genetic variant or variants which can cause them to metabolize a drug much more quickly than normal or might instead cause a slow metabolism of a particular drug. FAQ - PASSAGE VS PDL - CORIELL FAQ - Passage vs PDL. FAQ - Passage vs PDL. Passage refers to the transfer or subculture of cells from one culture vessel to another. Usually, but not necessarily, this implies subdivisions of a proliferating cell population enabling propagation of a cell line. Thus "passage number" is the number of times a culture has beensubcultured.
FAQ - FIBROBLAST CELL CULTURES - CORIELL CONTACT US. CUSTOMER SERVICE customerservice@coriell.org (800) 752-3805 (856) 757-4848 Coriell Institute for Medical ResearchGM24385 - CORIELL
PubMed ID: 29959024. 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 : JMD18:1525-15782018.
NA12878 - CORIELL
Nature487 (7406):190-5 2012. PubMed ID: 22785314. Shen P, Wang W, Krishnakumar S, Palm C, Chi AK, Enns GM, Davis RW, Speed TP, Mindrinos MN, Scharfe C, High-quality DNA sequence capture of 524 disease candidate genes Proceedings of the National Academy of Sciences of the United States of America108:6549-54 2011. FIBROBLAST CULTURE FAQ WHAT MEDIUM SHOULD BE USED FOR Fibroblast Culture FAQ Form 1302-16 Rev H-113017 Page 3 of 4 T25 4-10 ml. 2.0 x 105 – 6.0 x 105. T75 . 15-25 ml . 8.5 x 10. 5 – 1.3 x 10. 6. T175 . 35-50 ml. 1.8 x 10. 6 – 2.4 x 106. 4 Note: The chart above is to be used as a guideline only. Basic seeding rule is 1.0-1.4x 10
FAQ - IS HEAT INACTIVATION OF FETAL BOVINE SERUM NECESSARY Since we have changed to fetal bovine serum, we find that heat inactivation is not necessary for most cell lines. Occasionally we do find a differentiated cell line that grows better in heat inactivated serum, but for most lymphoblast and fibroblast lines it does not seem to make a difference whether the serum is heat inactivated or not.ACCOUNT LOG-IN
CONTACT US. CUSTOMER SERVICE customerservice@coriell.org (800) 752-3805 (856) 757-4848 Coriell Institute for Medical Research THE CORIELL INSTITUTE FOR MEDICAL RESEARCH CONTACT US. CUSTOMER SERVICE customerservice@coriell.org (800) 752-3805 (856) 757-4848. Coriell Institute for Medical Research 403 Haddon Avenue Camden, NJ 08103, USA (856) 966-7377NA12878 - CORIELL
Nature487 (7406):190-5 2012. PubMed ID: 22785314. Shen P, Wang W, Krishnakumar S, Palm C, Chi AK, Enns GM, Davis RW, Speed TP, Mindrinos MN, Scharfe C, High-quality DNA sequence capture of 524 disease candidate genes Proceedings of the National Academy of Sciences of the United States of America108:6549-54 2011.OUR FACULTY
Jean-Pierre Issa, MD, is President and Chief Executive Officer of the Coriell Institute for Medical Research. As such, Dr. Issa leads all aspects of the Coriell Institute in its mission to better understand human health and disease as well as serve as a trusted supplier of high quality biomaterials to the global scientific community.NA12877 - CORIELL
Ormond C, Ryan NM, Corvin A, Heron EA, Converting single nucleotide variants between genome builds: from cautionary tale to solution Briefings in bioinformatics: 2020: PubMed ID: 33822888 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 IPSC LICENSES AND LIMITED USE Researchers purchasing hiPSCs from the NIGMS Repository are responsible for any limited use label licenses (LULLs) applicable to the cell line purchased. It is the researcher’s responsibility to investigate whether the intended use of the cell line requires him/her to obtain commercial rights to the technology. Below are links toLULLs which
GM25256 - CORIELL
Remark: Induced pluripotent stem cell line derived from adult skin (leg) fibroblasts; subject clinically normal; wild-type; FISH test: 46, XY. This iPSC line (WTC-11) was submitted by Dr. Bruce R. Conklin (Gladstone Institute of Cardiovascular Disease, UCSF) and may serve as a control for diseased iPSCs GM25267 (LQT2) iPSC and GM25305 (LQT3); also available is a collection of fluorescentlyGM03813 - CORIELL
Chem Biol11 (11):1495-503 2004. Lunn MR, Root DE, Martino AM, Flaherty SP, Kelley BP, Coovert DD, Burghes AH, Man NT, Morris GE, Zhou J, Androphy EJ, Sumner CJ, Stockwell BR, Indoprofen upregulates the survival motor neuron protein through a cyclooxygenase-independent mechanism. Chem Biol11 (11):1489-93 2004. HELP FILE - ISCN SYMBOLS AND ABBREVIATED TERMS Help File - ISCN Symbols and Abbreviated Terms. ISCN Symbols and Abbreviated Terms. Symbols and abbreviated terms used in the description of chromosomes and chromosomal abnormalities are listed below. For a detailed discussion of these terms, consult ISCN (1995): An International System for Human Cytogenetic Nomenclature, Mitelman,F (ed); S
NA24143 - CORIELL
PubMed ID: 29959024. 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 : JMD18:1525-15782018.
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