Description:
CAMBODIAN POPULATION
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Human Variation Pharmacogenetics |
Alternate IDs |
GM17087 [CAMBODIAN POPULATION] |
Quantity |
25 µg |
Quantitation Method |
Please see our FAQ |
Biopsy Source
|
Peripheral vein
|
Cell Type
|
B-Lymphocyte
|
Tissue Type
|
Blood
|
Transformant
|
Epstein-Barr Virus
|
Sample Source
|
DNA from LCL
|
Race
|
Asian
|
Ethnicity
|
CAMBODIAN
|
Relation to Proband
|
proband
|
Confirmation
|
Clinical summary/Case history
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
|
GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a negative result with a primer for Yq11, DYS227. |
|
Remarks |
Line 86-192; Khmer Cambodian collected in California; adult; Yale-Stanford Collection |
Marini NJ, Gin J, Ziegle J, Keho KH, Ginzinger D, Gilbert DA, Rine J, The prevalence of folate-remedial MTHFR enzyme variants in humans Proceedings of the National Academy of Sciences of the United States of America: 2008 |
PubMed ID: 18523009 |
|
Lee SJ, Perera L, Coulter SJ, Mohrenweiser HW, Jetten A, Goldstein JA, The discovery of new coding alleles of human CYP26A1 that are potentially defective in the metabolism of all-trans retinoic acid and their assessment in a recombinant cDNA expression system Pharmacogenetics and genomics17:169-80 2007 |
PubMed ID: 17460545 |
|
Bleasby K, Hall LA, Perry JL, Mohrenweiser HW, Pritchard JB, Functional consequences of single nucleotide polymorphisms in the human organic anion transporter hOAT1 (SLC22A6) The Journal of pharmacology and experimental therapeutics314:923-31 2005 |
PubMed ID: 15914676 |
|
Go Y, Satta Y, Takenaka O, Takahata N, Lineage-specific loss of function of bitter taste receptor genes in humans and nonhuman primates Genetics170:313-26 2005 |
PubMed ID: 15744053 |
|
Pastinen T, Sladek R, Gurd S, Sammak A, Ge B, Lepage P, Lavergne K, Villeneuve A, Gaudin T, Brandstrom H, Beck A, Verner A, Kingsley J, Harmsen E, Labuda D, Morgan K, Vohl MC, Naumova AK, Sinnett D, Hudson TJ, A survey of genetic and epigenetic variation affecting human gene expression. Physiol Genomics16(2):184-93 2004 |
PubMed ID: 14583597 |
|
Sebat J, Lakshmi B, Troge J, Alexander J, Young J, Lundin P, Maner S, Massa H, Walker M, Chi M, Navin N, Lucito R, Healy J, Hicks J, Ye K, Reiner A, Gilliam TC, Trask B, Patterson N, Zetterberg A, Wigler M, Large-scale copy number polymorphism in the human genome. Science305(5683):525-8 2004 |
PubMed ID: 15273396 |
|
Fritsche E, Baek SJ, King LM, Zeldin DC, Eling TE, Bell DA, Functional characterization of cyclooxygenase-2 polymorphisms. J Pharmacol Exp Ther299(2):468-76 2001 |
PubMed ID: 11602656 |
|
Kidd KK, Morar B, Castiglione CM, Zhao H, Pakstis AJ, Speed WC, Bonne-Tamir B, Lu RB, Goldman D, Lee C, Nam YS, Grandy DK, Jenkins T, Kidd JR, A global survey of haplotype frequencies and linkage disequilibrium at the DRD2 locus. Hum Genet103:211-27 1998 |
PubMed ID: 9760208 |
|
Trask BJ, Friedman C, Martin-Gallardo A, Rowen L, Akinbami C, Blankenship J, Collins C, Giorgi D, Iadonato S, Johnson F, Kuo WL, Massa H, Morrish T, Naylor S, Nguyen OT, Rouquier S, Smith T, Wong DJ, Youngblom J, van den Engh G, Members of the olfactory receptor gene family are contained in large blocks of DNA duplicated polymorphically near the ends of human chromosomes. Hum Mol Genet7:13-26 1998 |
PubMed ID: 9384599 |
|
Mefford H, van den Engh G, Friedman C, Trask BJ, Analysis of the variation in chromosome size among diverse human populations by bivariate flow karyotyping. Hum Genet100:138-44 1997 |
PubMed ID: 9225983 |
|
|