NA07532
DNA from Fibroblast
Description:
APPARENTLY HEALTHY INDIVIDUAL
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Apparently Healthy Collection |
| Class |
Disorders of the Nervous System |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
DNA from Fibroblast
|
|
Race
|
Other
|
|
Ethnicity
|
Caucasian mother and Japanese father
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
ISCN
|
46,XX.arr(1-22,X)x2
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
7 |
| |
| 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 |
Same subject as GM07533 (lymph) and GM28907 (iPSC). |
| Cortez AJ, Kujawa KA, Wilk AM, Sojka DR, Syrkis JP, Olbryt M, Lisowska KM, Evaluation of the Role of ITGBL1 in Ovarian Cancer Cancers12: 2020 |
| PubMed ID: 32961775 |
| |
| 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 |
| |
| Kemeny S, Tatout C, Salaun G, Pebrel-Richard C, Goumy C, Ollier N, Maurin E, Pereira B, Vago P, Gouas L, Spatial organization of chromosome territories in the interphase nucleus of trisomy 21 cells Chromosoma19:1629-1643 2017 |
| PubMed ID: 29238858 |
| |
| Sharma NK, Lebedeva M, Thomas T, Kovalenko OA, Stumpf JD, Shadel GS, Santos JH, Intrinsic mitochondrial DNA repair defects in Ataxia Telangiectasia DNA Repair (AMST)13:22-31 2014 |
| PubMed ID: 24342190 |
| |
| Zajkowicz A, Rusin M, The activation of the p53 pathway by the AMP mimetic AICAR is reduced by inhibitors of the ATM or mTOR kinases Mechanisms of ageing and development13:22-31 2011 |
| PubMed ID: 21945951 |
| |
| Argellati F, Massone S, d'Abramo C, Marinari UM, Pronzato MA, Domenicotti C, Ricciarelli R, Evidence against the overexpression of APP in Down syndrome IUBMB life58:103-6 2006 |
| PubMed ID: 16608822 |
| |
| Kim HS, Li H, Cevher M, Parmelee A, Fonseca D, Kleiman FE, Lee SB, DNA damage-induced BARD1 phosphorylation is critical for the inhibition of messenger RNA processing by BRCA1/BARD1 complex Cancer research66:4561-5 2006 |
| PubMed ID: 16651405 |
| |
| Fonseca SG, Fukuma M, Lipson KL, Nguyen LX, Allen JR, Oka Y, Urano F, WFS1 is a novel component of the unfolded protein response and maintains homeostasis of the endoplasmic reticulum in pancreatic beta-cells The Journal of biological chemistry280:39609-15 2005 |
| PubMed ID: 16195229 |
| |
| Powers JT, Hong S, Mayhew CN, Rogers PM, Knudsen ES, Johnson DG, E2F1 uses the ATM signaling pathway to induce p53 and Chk2 phosphorylation and apoptosis. Mol Cancer Res2(4):203-14 2004 |
| PubMed ID: 15140942 |
| |
| Linke SP, Sengupta S, Khabie N, Jeffries BA, Buchhop S, Miska S, Henning W,
Pedeux R, Wang XW, Hofseth LJ, Yang Q, Garfield SH, Sturzbecher HW, Harris CC, p53 interacts with hRAD51 and hRAD54, and directly modulates homologous
recombination. Cancer Res63(10):2596-605 2003 |
| PubMed ID: 12750285 |
| |
| Sengupta S, Linke SP, Pedeux R, Yang Q, Farnsworth J, Garfield SH, Valerie K,
Shay JW, Ellis NA, Wasylyk B, Harris CC, BLM helicase-dependent transport of p53 to sites of stalled DNA replication
forks modulates homologous recombination. EMBO J22(5):1210-22 2003 |
| PubMed ID: 12606585 |
| |
| Wang XW, Zhan Q, Coursen JD, Khan MA, Kontny HU, Yu L, Hollander MC, O'Connor PM, Fornace AJ Jr, Harris CC, GADD45 induction of a G2/M cell cycle checkpoint. Proc Natl Acad Sci U S A96:3706-11 1999 |
| PubMed ID: 10097101 |
|