NA04501
DNA from Fibroblast
Description:
APPARENTLY HEALTHY INDIVIDUAL
MONOZYGOTIC TWIN PAIRS
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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
|
proband
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Confirmation
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Clinical summary/Case history
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ISCN
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arr(1-22)x2,(X,Y)x1
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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 |
4.82 |
| Passage Frozen |
11 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
| |
| Remarks |
Line HF20; monozygotic twin of GM04502A; 46,XY |
| LaRocca TJ, Cavalier AN, Wahl D, Repetitive elements as a transcriptomic marker of aging: Evidence in multiple datasets and models Aging cell: 2020 |
| PubMed ID: 32500641 |
| |
| Wehbe Z, Behringer S, Alatibi K, Watkins D, Rosenblatt D, Spiekerkoetter U, Tucci S, The emerging role of the mitochondrial fatty-acid synthase (mtFASII) in the regulation of energy metabolism Biochimica et biophysica acta Molecular and cell biology of lipids1864:1629-1643 2019 |
| PubMed ID: 31376476 |
| |
| 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 Biology19:1629-1643 2018 |
| PubMed ID: 30567591 |
| |
| Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013 |
| PubMed ID: 23665875 |
| |
| Shimada Y, Kobayashi H, Kawagoe S, Aoki K, Kaneshiro E, Shimizu H, Eto Y, Ida H, Ohashi T, Endoplasmic reticulum stress induces autophagy through activation of p38 MAPK in fibroblasts from Pompe disease patients carrying c546G>T mutation Molecular genetics and metabolism3:1143-9 2011 |
| PubMed ID: 21982629 |
| |
| Shimada Y, Nishida H, Nishiyama Y, Kobayashi H, Higuchi T, Eto Y, Ida H, Ohashi T, Proteasome inhibitors improve the function of mutant lysosomal a-glucosidase in fibroblasts from Pompe disease patient carrying c546G>T mutation Biochemical and biophysical research communications415:274-8 2011 |
| PubMed ID: 22027144 |
| |
| 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 |
| |
| Phylactou LA, Darrah C, Wood MJ, Ribozyme-mediated trans-splicing of a trinucleotide repeat. Nat Genet18:378-81 1998 |
| PubMed ID: 9537423 |
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