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
Heritable Diseases |
| Class |
Other Disorders of Known Biochemistry |
| Alternate IDs |
GM18068 [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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White
|
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Relation to Proband
|
proband
|
|
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 |
| |
| Remarks |
Apparently Healthy individual with a body mass index (BMI) within normal range; non-obese control; body mass index = 20; 125 pounds |
| Pfisterer SG, Brock I, Kanerva K, Hlushchenko I, Paavolainen L, Ripatti P, Islam MM, Kyttälä A, Di Taranto MD, Scotto di Frega A, Fortunato G, Kuusisto J, Horvath P, Ripatti S, Laakso M, Ikonen E, Multiparametric platform for profiling lipid trafficking in human leukocytes Cell reports methods2:100166 2022 |
| PubMed ID: 35474963 |
| |
| Georges P, Boza-Moran MG, Gide J, Pêche GA, Forêt B, Bayot A, Rustin P, Peschanski M, Martinat C, Aubry L, Induced pluripotent stem cells-derived neurons from patients with Friedreich ataxia exhibit differential sensitivity to resveratrol and nicotinamide Scientific reports9:14568 2019 |
| PubMed ID: 31601825 |
| |
| Sotamaa K, Liyanarachchi S, Mecklin JP, Järvinen H, Aaltonen LA, Peltomäki P, de la Chapelle A, p53 codon 72 and MDM2 SNP309 polymorphisms and age of colorectal cancer onset in Lynch syndrome Clinical cancer research : an official journal of the American Association for Cancer Research11:6840-4 2005 |
| PubMed ID: 16203772 |
|