Description:
HUMAN VARIATION PANEL - JAPANESE
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Human Variation
GeT-RM Samples |
| Alternate IDs |
GM04250 [HUMAN VARIATION PANEL - JAPANESE] |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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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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| PDL at Freeze |
5.32 |
| Passage Frozen |
6 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Pharmacogenomics Panel |
For pharmacogenetic variants please click here: GeT-RM PGx Search |
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| Charnaud S, Munro JE, Semenec L, Mazhari R, Brewster J, Bourke C, Ruybal-Pesántez S, James R, Lautu-Gumal D, Karunajeewa H, Mueller I, Bahlo M, PacBio long-read amplicon sequencing enables scalable high-resolution population allele typing of the complex CYP2D6 locus Communications biology5:168 2021 |
| PubMed ID: 35217695 |
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| Pratt VM, Turner A, Broeckel U, Dawson DB, Gaedigk A, Lynnes TC, Medeiros EB, Moyer AM, Requesens D, Ventrini F, Kalman LV, Characterization of Reference Materials for CYP2C9, CYP2C19, VKORC1, CYP2C Cluster Variant, GGCX, and Other Pharmacogenetic Alleles with an Association for Molecular Pathology (AMP) Pharmacogenetics Working Group Tier 2 Status - A GeT-RM Collaborative Project The Journal of molecular diagnostics : JMD5:168 2021 |
| PubMed ID: 34020041 |
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| Mun S, Kim S, Lee W, Kang K, Meyer TJ, Han BG, Han K, Kim HS, A study of transposable element-associated structural variations (TASVs) using a de novo-assembled Korean genome Experimental & molecular medicine53:615-630 2019 |
| PubMed ID: 33833373 |
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| Wang X, Abudu A, Son S, Dang Y, Venta PJ, Zheng YH, Analysis of Human APOBEC3H Haplotypes and Anti-Human Immunodeficiency Virus Type-1 Activity Journal of virology85(7):3142-52 2011 |
| PubMed ID: 21270145 |
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| Lee CC, McMillin GA, Babic N, Melis R, Yeo KT, Evaluation of a CYP2C19 genotype panel on the GenMark eSensor® platform and the comparison to the Autogenomics Infiniti™ and Luminex CYP2C19 panels Clinica chimica acta; international journal of clinical chemistry412(11-12):133-7 2010 |
| PubMed ID: 21385571 |
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| Pratt VM, Zehnbauer B, Wilson JA, Baak R, Babic N, Bettinotti M, Buller A, Butz K, Campbell M, Civalier C, El-Badry A, Farkas DH, Lyon E, Mandal S, McKinney J, Muralidharan K, Noll L, Sander T, Shabbeer J, Smith C, Telatar M, Toji L, Vairavan A, Vance C, Weck KE, Wu AH, Yeo KT, Zeller M, and Kalman L., Characterization of 107 Genomic DNA Reference Materials for CYP2D6, CYP2C19, CYP2C9, VKORC1, and UGT1A1 J Mol Diagn12(6):835-46 2010 |
| PubMed ID: 20889555 |
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| Gonzalez-Covarrubias V, Ghosh D, Lakhman SS, Pendyala L, Blanco JG, A functional genetic polymorphism on human carbonyl reductase 1 (CBR1 V88I) impacts on catalytic activity and NADPH binding affinity Drug metabolism and disposition: the biological fate of chemicals35:973-80 2007 |
| PubMed ID: 17344335 |
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| Maitland ML, Grimsley C, Kuttab-Boulos H, Witonsky D, Kasza KE, Yang L, Roe BA, Di Rienzo A, Comparative genomics analysis of human sequence variation in the UGT1A gene cluster The pharmacogenomics journal6:52-62 2005 |
| PubMed ID: 16314881 |
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| Tuzun E, Sharp AJ, Bailey JA, Kaul R, Morrison VA, Pertz LM, Haugen E, Hayden H, Albertson D, Pinkel D, Olson MV, Eichler EE, Fine-scale structural variation of the human genome Nature genetics37:727-32 2005 |
| PubMed ID: 15895083 |
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| Wang J, Song L, Gonder MK, Azrak S, Ray DA, Batzer MA, Tishkoff SA, Liang P, Whole genome computational comparative genomics: A fruitful approach for ascertaining Alu insertion polymorphisms Gene365:11-20 2005 |
| PubMed ID: 16376498 |
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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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| Ferland RJ, Eyaid W, Collura RV, Tully LD, Hill RS, Al-Nouri D, Al-Rumayyan A, Topcu M, Gascon G, Bodell A, Shugart YY, Ruvolo M, Walsh CA, Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome. Nat Genet36(9):1008-13 2004 |
| PubMed ID: 15322546 |
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| Matsuzaki H, Dong S, Loi H, Di X, Liu G, Hubbell E, Law J, Berntsen T, Chadha M, Hui H, Yang G, Kennedy GC, Webster TA, Cawley S, Walsh PS, Jones KW, Fodor SP, Mei R, Genotyping over 100,000 SNPs on a pair of oligonucleotide arrays. Nat Methods1(2):109-11 2004 |
| PubMed ID: 15782172 |
| Passage Frozen |
6 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
10% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Supplement |
- |
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