AG03258
Fibroblast from Skin, Skin
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 |
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Biopsy Source
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Skin
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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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Fibroblast from Skin, Skin
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Race
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White
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Family Member
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3
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Relation to Proband
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father
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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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| Remarks |
Donor is a clinically unaffected father of an affected child. The cell morphology is fibroblast-like. Culture was frozen at approximate PDL 10 to 12. |
| 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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| 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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| Cao K, Capell BC, Erdos MR, Djabali K, Collins FS, A lamin A protein isoform overexpressed in Hutchinson-Gilford progeria syndrome interferes with mitosis in progeria and normal cells Proceedings of the National Academy of Sciences of the United States of America104:4949-54 2007 |
| PubMed ID: 17360355 |
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| Eriksson M, Brown WT, Gordon LB, Glynn MW, Singer J, Scott L, Erdos MR, Robbins CM, Moses TY, Berglund P, Dutra A, Pak E, Durkin S, Csoka AB, Boehnke M, Glover TW, Collins FS, Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature423(6937):293-8 2003 |
| PubMed ID: 12714972 |
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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 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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