NG03199
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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Hip
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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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ISCN
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46,XX[23].arr(1-22,X)x2
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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 |
6.42 |
| Passage Frozen |
5 |
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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 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 left lateral hip area. The culture was initiated using explants of minced skin tissue. The cell morphology is fibroblastlike. The karyotype is 46,XX; normal diploid female. The culture is frozen at PDL 10. Other cultures for same donor are AG03198A and AG03259A. The legacy karyotype description shown in this Remark may not be representative of the current available product. |
| 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 WM, Chiang JC, Lin YC, Lin YN, Chuang PY, Chang YC, Chen CC, Wu KY, Hsieh JC, Chen SK, Huang WP, Chen BPC, Lee H, Lysophosphatidic acid receptor LPA Aging cell4:e13064 2019 |
| PubMed ID: 31714004 |
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| Dworak N, Makosa D, Chatterjee M, Jividen K, Yang CS, Snow C, Simke WC, Johnson IG, Kelley JB, Paschal BM, A nuclear lamina-chromatin-Ran GTPase axis modulates nuclear import and DNA damage signaling Aging Cell4:e13064 2018 |
| PubMed ID: 30565836 |
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| Scaffidi P, Misteli T, Reversal of the cellular phenotype in the premature aging disease Hutchinson-Gilford progeria syndrome. Nat Med11(4):440-5 2005 |
| PubMed ID: 15750600 |
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| Bridger JM, Kill IR, Aging of Hutchinson-Gilford progeria syndrome fibroblasts is characterised by hyperproliferation and increased apoptosis. Exp Gerontol39(5):717-24 2004 |
| PubMed ID: 15130666 |
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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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| 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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| 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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| 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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