NG03198
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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Leg
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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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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 |
4.55 |
| Passage Frozen |
6 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| Remarks |
Donor had classic features of progeria and also mild maturity onset diabetes. Family history is negative. The biopsy was taken ante-mortem on 10/12/78 from skin of the leg. The culture was initiated using explants of minced skin tissue. The cell morphology is fibroblast-like. The culture is frozen at PDL 10. Other cultures from same donor are AG03199 and AG03259A. |
| 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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| Kang SM, Yoon MH, Ahn J, Kim JE, Kim SY, Kang SY, Joo J, Park S, Cho JH, Woo TG, Oh AY, Chung KJ, An SY, Hwang TS, Lee SY, Kim JS, Ha NC, Song GY, Park BJ, Progerinin, an optimized progerin-lamin A binding inhibitor, ameliorates premature senescence phenotypes of Hutchinson-Gilford progeria syndrome Communications biology4:5 2020 |
| PubMed ID: 33398110 |
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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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| 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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| 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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| Chen KY, Chang ZF, Liu AY, Changes of serum-induced ornithine decarboxylase activity and putrescine content during aging of IMR-90 human diploid fibroblasts. J Cell Physiol129:142-6 1986 |
| PubMed ID: 3771651 |
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| Guernsey DL, Koebbe M, Thomas JE, Myerly TK, Zmolek D, An altered response in the induction of cell membrane (Na + K)ATPase by thyroid hormone is characteristic of senescence in cultured human fibroblasts. Mech Ageing Dev33:283-93 1986 |
| PubMed ID: 3012221 |
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| Brown WT, Darlington GJ, Thermolabile enzymes in progeria and Werner syndrome: evidence contrary to the protein error hypothesis. Am J Hum Genet32:614-9 1980 |
| PubMed ID: 6930821 |
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