Description:
AFRICAN-AMERICAN
|
Repository
|
NIGMS Human Genetic Cell Repository
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| Subcollection |
Human Variation |
| Alternate IDs |
GM14683 [AFRICAN-AMERICAN] |
|
GM17037 [AFRICAN-AMERICAN] |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
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Peripheral vein
|
|
Cell Type
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B-Lymphocyte
|
|
Tissue Type
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Blood
|
|
Transformant
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Epstein-Barr Virus
|
|
Sample Source
|
DNA from LCL
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
ISCN
|
45,X
|
|
Species
|
Homo sapiens
|
|
Common Name
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Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Remarks |
This subject was in the original African-American Panel of 100, but was removed in Version 2 of the panel due to unexpected relatedness; she is the sister of GM17194 |
| 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 |
| |
| 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 |
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