Description:
HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 (VERSION 2)
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Human Variation
dbGaP |
| Alternate IDs |
GM14666 [HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 (VERSION 2)] |
| 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
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Maurice CB, Barua PK, Simses D, Smith P, Howe JG, Stack G, Comparison of assay systems for warfarin-related CYP2C9 and VKORC1 genotyping Clinica chimica acta; international journal of clinical chemistry411:947-54 2009 |
| PubMed ID: 20226775 |
| |
| 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 America411:947-54 2008 |
| PubMed ID: 18523009 |
| |
| Mohler PJ, Le Scouarnec S, Denjoy I, Lowe JS, Guicheney P, Caron L, Driskell IM, Schott JJ, Norris K, Leenhardt A, Kim RB, Escande D, Roden DM, Defining the cellular phenotype of "ankyrin-B syndrome" variants: human ANK2 variants associated with clinical phenotypes display a spectrum of activities in cardiomyocytes Circulation115:432-41 2007 |
| PubMed ID: 17242276 |
|
|