NG08466
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 |
10ug |
| Quantitation Method |
Please see our FAQ |
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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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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 |
4.14 |
| Passage Frozen |
3 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| Remarks |
Donor showed loss of subcutaneous fat, a beak nose, osteoarthritis, venous prominence, and an elevated urinary glycosaminoglycan level, but no alopecia. Low weight and dislocated hips present at birth. Marfan features have also developed. The skin biopsy was taken ante-mortem on 10/25/85. The culture was initiated using explants of minced tissue. The cell morphology is fibroblast-like. The karyotype is 46,XX; normal diploid female. A gingival fibroblast culture from same donor is AG08467. The legacy karyotype description shown in this Remark may not be representative of the current available product. |
| Fan JR, You LR, Wang WJ, Huang WS, Chu CT, Chi YH, Chen HC, Lamin A-mediated nuclear lamina integrity is required for proper ciliogenesis EMBO reports:e49680 2019 |
| PubMed ID: 32815283 |
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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 cell:e49680 2019 |
| PubMed ID: 32710480 |
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| Bikkul MU1, Faragher RGA2, Worthington G1, Meinke P3,4, Kerr ARW4, Sammy A1, Riyahi K1, Horton D1, Schirmer EC4, Hubank M5, Kill IR1, Anderson RM1, Slijepcevic P1, Makarov E1, Bridger JM1., Telomere elongation through hTERT immortalisation leads to chromosome repositioning in control cells and genomic instability in Hutchinson-Gilford Progeria syndrome fibroblasts, expressing a novel SUN1 isoform Genes Chromosomes Cancer:e49680 2018 |
| PubMed ID: 30474255 |
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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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| Wallis CV, Sheerin AN, Green MH, Jones CJ, Kipling D, Faragher RG, Fibroblast clones from patients with Hutchinson-Gilford progeria can senesce despite the presence of telomerase. Exp Gerontol39(4):461-7 2004 |
| PubMed ID: 15050279 |
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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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