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NG06297 DNA from Fibroblast

Description:

HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS
LAMIN A/C; LMNA

Affected:

Yes

Sex:

Male

Age:

8 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links

Overview

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Repository NIA Aging Cell Culture Repository
Subcollection Heritable Diseases
Quantity 10 µg
Quantitation Method Please see our FAQ
Biopsy Source Thigh
Cell Type Fibroblast
Tissue Type Skin
Transformant Untransformed
Sample Source DNA from Fibroblast
Race White
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks The donor had classic features of progeria and died at age 14 years of congestive heart failure. Autopsy revealed severe coronary-vascular disease. The biopsy was taken ante-mortem on 1/11/72 from skin on the anterior thigh region. The culture was initiated using explants of minced skin tissue. The cell morphology is fibroblast-like. The karyotype is 46,XY; normal diploid male. Culture is frozen at PDL 33 and has a maximum lifespan of 40 PD. Donor subject has a de novo single base substitution, a C>T change at nucleotide 2036 (2036C>T), which results in a silent change at codon 608 [Gly608Gly (G608G)] in exon 11 of the Lamin A gene (LMNA). This substitution creates an exonic consensus splice donor sequence and results in activation of a cryptic splice site which in turn causes skipping of 150 bp of the LMNA mRNA leading to the deletion of 50 amino acids from the protein. This altered LMNA protein was detected on western blots [Eriksson et al., Nature 423:293 (2003)]. The legacy karyotype description shown in this Remark may not be representative of the current available product.

Characterizations

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PDL at Freeze 4.71
Passage Frozen 19
 
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
 
Gene LMNA
Chromosomal Location 1q21.2
Allelic Variant 1 150330.0022; HUTCHINSON-GILFORD PROGERIA SYNDROME
Identified Mutation GLY608GLY; Description: In 18 of 20 patients with classic Hutchinson-Gilford progeria syndrome (176670), Eriksson et al. [Nature 423: 293 (2003)] found an identical de novo single-base substitution, a C-to-T change resulting in a silent gly-to-gly mutation at codon 608 (G608G) within exon 11 of the LMNA gene. This substitution created an exonic consensus splice donor sequence and resulted in activation of a cryptic splice site and deletion of 50 basepairs of prelamin A. This mutation was not identified in any of the 16 parents available for testing.

Phenotypic Data

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Remarks The donor had classic features of progeria and died at age 14 years of congestive heart failure. Autopsy revealed severe coronary-vascular disease. The biopsy was taken ante-mortem on 1/11/72 from skin on the anterior thigh region. The culture was initiated using explants of minced skin tissue. The cell morphology is fibroblast-like. The karyotype is 46,XY; normal diploid male. Culture is frozen at PDL 33 and has a maximum lifespan of 40 PD. Donor subject has a de novo single base substitution, a C>T change at nucleotide 2036 (2036C>T), which results in a silent change at codon 608 [Gly608Gly (G608G)] in exon 11 of the Lamin A gene (LMNA). This substitution creates an exonic consensus splice donor sequence and results in activation of a cryptic splice site which in turn causes skipping of 150 bp of the LMNA mRNA leading to the deletion of 50 amino acids from the protein. This altered LMNA protein was detected on western blots [Eriksson et al., Nature 423:293 (2003)]. The legacy karyotype description shown in this Remark may not be representative of the current available product.

Publications

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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
 
Kychygina A, Dall'Osto M, Allen JAM, Cadoret JC, Piras V, Pickett HA, Crabbe L, Progerin impairs 3D genome organization and induces fragile telomeres by limiting the dNTP pools Scientific reports11:13195 2021
PubMed ID: 34162976
 
Lee J, Bignone PA, Coles LS, Liu Y, Snyder E, Larocca D, Induced pluripotency and spontaneous reversal of cellular aging in supercentenarian donor cells Biochemical and biophysical research communications11:13195 2020
PubMed ID: 32115145
 
Puttaraju M, Jackson M, Klein S, Shilo A, Bennett CF, Gordon L, Rigo F, Misteli T, Systematic screening identifies therapeutic antisense oligonucleotides for Hutchinson-Gilford progeria syndrome Nature medicine27:526-535 2020
PubMed ID: 33707772
 
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 reports27:e49680 2019
PubMed ID: 32815283
 
Hamczyk MR, Villa-Bellosta R, Quesada V, Gonzalo P, Vidak S, Nevado RM, Andrés-Manzano MJ, Misteli T, López-Otín C, Andrés V, Progerin accelerates atherosclerosis by inducing endoplasmic reticulum stress in vascular smooth muscle cells EMBO molecular medicine11:e49680 2019
PubMed ID: 30862662
 
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 Cancer11:e49680 2018
PubMed ID: 30474255
 
Miller JD, Ganat YM, Kishinevsky S, Bowman RL, Liu B, Tu EY, Mandal PK, Vera E, Shim JW, Kriks S, Taldone T, Fusaki N, Tomishima MJ, Krainc D, Milner TA, Rossi DJ, Studer L., Human iPSC-Based Modeling of Late-Onset Disease via Progerin-Induced Aging. Cell Stem Cell.13(6):691-705 2013
PubMed ID: 24315443
 
Rivera-Torres J, Acín-Perez R, Cabezas-Sánchez P, Osorio FG, Gonzalez-Gómez C, Megias D, Cámara C, López-Otín C, Enríquez JA, Luque-García JL, Andrés V., Identification of mitochondrial dysfunction in Hutchinson-Gilford progeria syndrome through use of stable isotope labeling with amino acids in cell culture. J Proteomics.91C:466-477 2013
PubMed ID: 23969228
 
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
 
Zhang J, Lian Q, Zhu G, Zhou F, Sui L, Tan C, Mutalif RA, Navasankari R, Zhang Y, Tse HF, Stewart CL, Colman A, A human iPSC model of Hutchinson Gilford Progeria reveals vascular smooth muscle and mesenchymal stem cell defects Cell stem cell8:31-45 2010
PubMed ID: 21185252
 
Britt-Compton B, Wyllie F, Rowson J, Capper R, Jones RE, Baird DM, Telomere dynamics during replicative senescence are not directly modulated by conditions of oxidative stress in IMR90 fibroblast cells Biogerontology8:31-45 2008
PubMed ID: 19214769
 
Decker ML, Chavez E, Vulto I, Lansdorp PM, Telomere length in Hutchinson-Gilford progeria syndrome Mechanisms of ageing and development130:377-83 2008
PubMed ID: 19428457
 
Moulson CL, Fong LG, Gardner JM, Farber EA, Go G, Passariello A, Grange DK, Young SG, Miner JH, Increased progerin expression associated with unusual LMNA mutations causes severe progeroid syndromes Human mutation28:882-9 2007
PubMed ID: 17469202
 
Scaffidi P, Misteli T, Lamin A-dependent misregulation of adult stem cells associated with accelerated ageing Nature cell biology28:882-9 2007
PubMed ID: 18311132
 
Glynn MW, Glover TW, Incomplete processing of mutant lamin A in Hutchinson-Gilford progeria leads to nuclear abnormalities, which are reversed by farnesyltransferase inhibition Human molecular genetics14:2959-69 2005
PubMed ID: 16126733
 
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
 
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
 
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
 
Ly DH, Lockhart DJ, Lerner RA, Schultz PG, Mitotic misregulation and human aging. Science287(5462):2486-92 2000
PubMed ID: 10741968
 
Winkles JA, O'Connor ML, Friesel R, Altered regulation of platelet-derived growth factor A-chain and c-fos gene expression in senescent progeria fibroblasts. J Cell Physiol144:313-25 1990
PubMed ID: 2166059
 
Goldstein S, Moerman E, Heat-labile enzymes in skin fibroblasts from subjects with progeria. N Engl J Med292:1305-9 1975
PubMed ID: 1128606

External Links

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dbSNP dbSNP ID: 19650
Gene Cards LMNA
Gene Ontology GO:0005198 structural molecule activity
GO:0005515 protein binding
GO:0005634 nucleus
GO:0005638 lamin filament
GO:0005882 intermediate filament
GO:0007517 muscle development
GEO GEO Accession No: GSM603044
GEO Accession No: GSM603045
GEO Accession No: GSM603052
GEO Accession No: GSM603053
NCBI Gene Gene ID:4000
NCBI GTR 150330 LAMIN A/C; LMNA
176670 HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS
OMIM 150330 LAMIN A/C; LMNA
176670 HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS
Omim Description HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS
  PROGERIA
Pricing
Commercial:
$155.00USD
Academic &
Non-profit:
$72.00USD
NIA Grantees:
$62.00USD
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