Description:
APPARENTLY HEALTHY INDIVIDUAL
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Apparently Healthy Collection |
| Alternate IDs |
GM17015 [APPARENTLY HEALTHY INDIVIDUAL] |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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Asian
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Ethnicity
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CHINESE
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Family Member
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3
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Relation to Proband
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father
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Confirmation
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Clinical summary/Case history
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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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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
| |
| Remarks |
Spouse and daughter (GM09818) have a balanced t(2;12); daughter has mental retardation and cerebral palsy |
| Ames D, Murphy N, Helentjaris T, Sun N, Chandler VL, Comparative analyses of human single- and multi-locus tandem repeats Genetics: 2008 |
| PubMed ID: 18562644 |
| |
| Bernacki SH, Beck JC, Muralidharan K, Schaefer FV, Shrimpton AE, Richie KL, Levin BC, Pont-Kingdon G, Stenzel TT., Characterization of publicly available lymphoblastoid cell lines for disease-associated mutations in 11 genes. Clin Chem51(11):2156-9 2005 |
| PubMed ID: 16244288 |
| |
| Drouet J, Delteil C, Lefrancois J, Concannon P, Salles B, Calsou P, DNA-dependent protein kinase and XRCC4-DNA ligase IV mobilization in the cell in response to DNA double strand breaks. J Biol Chem280(8):7060-9 2005 |
| PubMed ID: 15520013 |
| |
| Halushka MK, Fan JB, Bentley K, Hsie L, Shen N, Weder A, Cooper R, Lipshutz R,
Chakravarti A, Patterns of single-nucleotide polymorphisms in candidate genes for
blood-pressure homeostasis. Nat Genet22(3):239-47 1999 |
| PubMed ID: 10391210 |
| |
| Baumann P, West SC, DNA end-joining catalyzed by human cell-free extracts. Proc Natl Acad Sci U S A95:14066-70 1998 |
| PubMed ID: 9826654 |
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| Zhukov VG, Navashin SM, Changes in the ultrastructure of Staph. aureus cells under the action of certain antibiotics. Antibiotiki9:813-7 1975 |
| PubMed ID: 1180533 |
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