NG03513
DNA from Fibroblast
Description:
HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS
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Repository
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NIA Aging Cell Culture Repository
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| Subcollection |
Heritable Diseases |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Arm
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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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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Ethnicity
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MEXICAN
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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 |
5.05 |
| Passage Frozen |
8 |
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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 and by Chromosome Analysis |
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| Remarks |
Donor has classical features of progeria, but no signs of heart disease. Parents and sibs are clinically unaffected. The biopsy was taken antemortem on 5/15/79 from skin on the medial forearm. The culture was initiated using explants of minced skin tissue. The cell morphology is fibroblast-like. The karyotype is 46,XY; normal diploid male. An increased thermolabile component of triosephosphate isomerase has been reported for this culture. A lymphoblast culture from same donor is AG03506. The legacy karyotype description shown in this Remark may not be representative of the current available product. |
| Maynard S, Hall A, Galanos P, Rizza S, Yamamoto T, Gram HH, Munk SHN, Shoaib M, Sørensen CS, Bohr VA, Lerdrup M, Maya-Mendoza A, Bartek J, Lamin A/C impairments cause mitochondrial dysfunction by attenuating PGC1a and the NAMPT-NAD+ pathway Nucleic acids research50:9948-9965 2022 |
| PubMed ID: 36099415 |
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| Chen X, Yao H, Kashif M, Revêchon G, Eriksson M, Hu J, Wang T, Liu Y, Tüksammel E, Strömblad S, Ahearn IM, Philips MR, Wiel C, Ibrahim MX, Bergo MO, A small-molecule ICMT inhibitor delays senescence of Hutchinson-Gilford progeria syndrome cells eLife10:9948-9965 2020 |
| PubMed ID: 33526168 |
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| Mu X, Tseng C, Hambright WS, Matre P, Lin CY, Chanda P, Chen W, Gu J, Ravuri S, Cui Y, Zhong L, Cooke JP, Niedernhofer LJ, Robbins PD, Huard J, Cytoskeleton stiffness regulates cellular senescence and innate immune response in Hutchinson-Gilford Progeria Syndrome Aging cell10:9948-9965 2019 |
| PubMed ID: 32710480 |
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| Lan YY, Heather JM, Eisenhaure T, Garris CS, Lieb D, Raychowdhury R, Hacohen N, Extranuclear DNA accumulates in aged cells and contributes to senescence and inflammation Aging cell10:e12901 2018 |
| PubMed ID: 30706626 |
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| Li Y, Zhou G, Bruno IG, Zhang N, Sho S, Tedone E, Lai TP, Cooke JP, Shay JW, Transient introduction of human telomerase mRNA improves hallmarks of progeria cells Aging cell18:e12979 2018 |
| PubMed ID: 31152494 |
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| Luo YB, Mitrpant C, Johnsen R, Fabian V, Needham M, Fletcher S, Wilton SD, Mastaglia FL, Investigation of splicing changes and post-translational processing of LMNA in sporadic inclusion body myositis Int J Clin Exp Pathol6(9):1723-33 2013 |
| PubMed ID: 24040437 |
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| Luo YB, Mitrpant C, Johnsen RD, Fabian VA, Fletcher S, Mastaglia FL, Wilton SD., Investigation of age-related changes in LMNA splicing and expression of progerin in human skeletal muscles Int J Clin Exp Pathol6(12):2778-86 2013 |
| PubMed ID: 24294364 |
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| Chen CY, Chi YH, Mutalif RA, Starost MF, Myers TG, Anderson SA, Stewart CL, Jeang KT., Accumulation of inner nuclear envelope protein Sun1 is pathogenic in progeric and dystrophic laminopathies. Cell149:565-77 2012 |
| PubMed ID: 22541428 |
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| Britt-Compton B, Wyllie F, Rowson J, Capper R, Jones RE, Baird DM, Telomere dynamics during replicative senescence are not directly modulated by conditions of oxidative stress in IMR90 fibroblast cells Biogerontology149:565-77 2008 |
| PubMed ID: 19214769 |
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| Decker ML, Chavez E, Vulto I, Lansdorp PM, Telomere length in Hutchinson-Gilford progeria syndrome Mechanisms of ageing and development130:377-83 2008 |
| PubMed ID: 19428457 |
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| Glynn MW, Glover TW, Incomplete processing of mutant lamin A in Hutchinson-Gilford progeria leads to nuclear abnormalities, which are reversed by farnesyltransferase inhibition Human molecular genetics14:2959-69 2005 |
| PubMed ID: 16126733 |
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| Huang S, Chen L, Libina N, Janes J, Martin GM, Campisi J, Oshima J, Correction of cellular phenotypes of Hutchinson-Gilford Progeria cells by RNA interference Human genetics118:444-50 2005 |
| PubMed ID: 16208517 |
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| Reddel CJ, Weiss AS, Lamin A expression levels are unperturbed at the normal and mutant alleles but display partial splice site selection in Hutchinson-Gilford progeria syndrome Journal of medical genetics41:715-7 2004 |
| PubMed ID: 15342704 |
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| Giro M, Davidson JM, Familial co-segregation of the elastin phenotype in skin fibroblasts from Hutchinson-Gilford progeria. Mech Ageing Dev70:163-36 1993 |
| PubMed ID: 8246632 |
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| Winkles JA, O'Connor ML, Friesel R, Altered regulation of platelet-derived growth factor A-chain and c-fos gene expression in senescent progeria fibroblasts. J Cell Physiol144:313-25 1990 |
| PubMed ID: 2166059 |
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| Nakamura KD, Turturro A, Hart RW, Elevated c-myc expression in progeria fibroblasts. Biochem Biophys Res Commun155:996-1000 1988 |
| PubMed ID: 3421979 |
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| Sephel GC, Sturrock A, Giro MG, Davidson JM, Increased elastin production by progeria skin fibroblasts is controlled by the steady-state levels of elastin mRNA. J Invest Dermatol90:643-7 1988 |
| PubMed ID: 3361140 |
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| Oliver CN, Ahn BW, Moerman EJ, Goldstein S, Stadtman ER, Age-related changes in oxidized proteins. J Biol Chem262:5488-91 1987 |
| PubMed ID: 3571220 |
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| Mokrasch LC, Cell membrane transport enzymes in cultured dermal fibroblasts from progeroid donors: a comparison to other human fibroblasts. Gerontology32:202-6 1986 |
| PubMed ID: 3770489 |
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| Chapman ML, Zaun MR, Gracy RW, Changes in NAD levels in human lymphocytes and fibroblasts during aging and in premature aging syndromes. Mech Ageing Dev21:157-67 1983 |
| PubMed ID: 6223188 |
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| Tollefsbol TO, Zaun MR, Gracy RW, Increased lability of triosephosphate isomerase in progeria and Werner's syndrome fibroblasts. Mech Ageing Dev20:93-101 1982 |
| PubMed ID: 7176709 |
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