NA07753
DNA from Fibroblast
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 |
| Class |
Disorders of the Nervous System |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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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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Sample Source
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DNA from Fibroblast
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Race
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White
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Family Member
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1
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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 |
2.12 |
| Passage Frozen |
5 |
| |
| 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 |
Normal psychiatric evaluation; see GM7752 Lymphoid |
| Fleischer JG, Schulte R, Tsai HH, Tyagi S, Ibarra A, Shokhirev MN, Huang L, Hetzer MW, Navlakha S, Predicting age from the transcriptome of human dermal fibroblasts Genome Biology19: 2018 |
| PubMed ID: 30567591 |
| |
| Xu Z1, Lo WS2, Beck DB3, Schuch LA4, Oláhová M5, Kopajtich R6, Chong YE7, Alston CL5, Seidl E4, Zhai L8, Lau CF2, Timchak D9, LeDuc CA10, Borczuk AC11, Teich AF12, Juusola J13, Sofeso C14, Müller C15, Pierre G16, Hilliard T16, Turnpenny PD17, Wagner M18, Kappler M4, Brasch F19, Bouffard JP20, Nangle LA7, Yang XL21, Zhang M22, Taylor RW5, Prokisch H6, Griese M4, Chung WK23, Schimmel P24., Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function American Journal of Human Genetics103:100-114 2018 |
| PubMed ID: 29979980 |
| |
| Makareeva E, Mertz EL, Kuznetsova NV, Sutter MB, DeRidder AM, Cabral WA, Barnes AM, McBride DJ, Marini JC, Leikin S, Structural heterogeneity of type I collagen triple helix and its role in osteogenesis imperfecta The Journal of biological chemistry283:4787-98 2007 |
| PubMed ID: 18073209 |
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