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 |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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White
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Relation to Proband
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proband
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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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| PDL at Freeze |
4.53 |
| Passage Frozen |
6 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Remarks |
Clinically normal individual with a normal brain MRI scan, neurological exam, and neuropsychological testing. This individual participated in a research study as a normal control. Medical records had been reviewed to confirm that the individual had no other medical problems. This individual was also evaluated by the submitter. |
| Cencelli G, Pacini L, De Luca A, Messia I, Gentile A, Kang Y, Nobile V, Tabolacci E, Jin P, Farace MG, Bagni C, Age-Dependent Dysregulation of APP in Neuronal and Skin Cells from Fragile X Individuals Cells12: 2022 |
| PubMed ID: 36899894 |
| |
| Dooves S, van Velthoven AJH, Suciati LG, Heine VM, Neuron-Glia Interactions in Tuberous Sclerosis Complex Affect the Synaptic Balance in 2D and Organoid Cultures Cells10: 2020 |
| PubMed ID: 33445520 |
| |
| Warren EC, Dooves S, Lugarà E, Damstra-Oddy J, Schaf J, Heine VM, Walker MC, Williams RSB, Decanoic acid inhibits mTORC1 activity independent of glucose and insulin signaling Proceedings of the National Academy of Sciences of the United States of America10: 2020 |
| PubMed ID: 32879008 |
| |
| Zhang X, Nemeria NS, Leandro J, Houten S, Lazarus MB, Gerfen GJ, Ozohanics O, Ambrus A, Nagy B, Brukh R, Jordan F, Structure-function analyses of the G729R 2-oxoadipate dehydrogenase genetic variant associated with L-lysine metabolism disorder The Journal of biological chemistry10: 2020 |
| PubMed ID: 32303640 |
| |
| Yang SJ, Lipnick SL, Makhortova NR, Venugopalan S, Fan M, Armstrong Z, Schlaeger TM, Deng L, Chung WK, O'Callaghan L, Geraschenko A, Whye D, Berndl M, Hazard J, Williams B, Narayanaswamy A, Ando DM, Nelson P, Rubin LL, Applying Deep Neural Network Analysis to High-Content Image-Based Assays SLAS discovery : advancing life sciences R & D24:829-841 2019 |
| PubMed ID: 31284814 |
| Passage Frozen |
6 |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Supplement |
- |
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