NG00989
DNA from Fibroblast
Description:
HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS
LAMIN A/C; LMNA
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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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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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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 |
4.65 |
| Passage Frozen |
2 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Gene |
LMNA |
| Chromosomal Location |
1q21.2 |
| Allelic Variant 1 |
R644C; HUTCHINSON-GILFORD PROGERIA SYNDROME |
| Identified Mutation |
ARG644CYS |
| Remarks |
Donor was diagnosed with atypical progeria and an unspecified type of cachectic dwarfism. The culture was initiated on 2/11/69 using explants of minced skin and was designated Strain S.J. The cell morphology is fibroblast-like. Culture was frozen at PDL 22. This donor is heterozygous for a C-to-T substitution at nucleotide 2142 (2142C>T) in exon 11 of the LMNA gene, resulting in a missense mutation in codon 644 [Arg644Cys (R644C)]. This mutation affects only Lamin A. R644 is in the putative cleavage recognition sequence for the prelamin A endoprotease, Zmpste24. |
| Della Valle F, Reddy P, Yamamoto M, Liu P, Saera-Vila A, Bensaddek D, Zhang H, Prieto Martinez J, Abassi L, Celii M, Ocampo A, Nuñez Delicado E, Mangiavacchi A, Aiese Cigliano R, Rodriguez Esteban C, Horvath S, Izpisua Belmonte JC, Orlando V, LINE-1 RNA causes heterochromatin erosion and is a target for amelioration of senescent phenotypes in progeroid syndromes Science translational medicine14:eabl6057 2022 |
| PubMed ID: 35947677 |
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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 cell14:e12901 2018 |
| PubMed ID: 30706626 |
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| Barrowman J, Hamblet C, Kane MS, Michaelis S, Requirements for efficient proteolytic cleavage of prelamin A by ZMPSTE24 PloS one7:e32120 2011 |
| PubMed ID: 22355414 |
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| Toth JI, Yang SH, Qiao X, Beigneux AP, Gelb MH, Moulson CL, Miner JH, Young SG, Fong LG, Blocking protein farnesyltransferase improves nuclear shape in fibroblasts from humans with progeroid syndromes Proceedings of the National Academy of Sciences of the United States of America102:12873-8 2005 |
| PubMed ID: 16129834 |
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| Csoka AB, Cao H, Sammak PJ, Constantinescu D, Schatten GP, Hegele RA, Novel lamin A/C gene (LMNA) mutations in atypical progeroid syndromes. J Med Genet41(4):304-8 2004 |
| PubMed ID: 15060110 |
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| Leszczyniecka M, Kang DC, Sarkar D, Su ZZ, Holmes M, Valerie K, Fisher PB, Identification and cloning of human polynucleotide phosphorylase, hPNPase old-35, in the context of terminal differentiation and cellular senescence Proc Natl Acad Sci U S A99(26):16636-41 2002 |
| PubMed ID: 12473748 |
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