Coriell Institute for Medical Research
Coriell Institute of Medical Research
  • Request a Quote
  • Donate
  • Login
  • View Cart
Sample Catalog | Custom Services | Core Facilities | Genomic Data Search
  • Biobank
    • NIGMS
    • NINDS
    • NIA
    • NHGRI
    • NEI
    • Allen Cell Collection
    • Rett Syndrome iPSC Collection
    • Autism Research Resource
    • HD Community Biorepository
    • CDC Cell and DNA
    • J. Craig Venter Institute
    • Orphan Disease Center Collection
    • All Biobanks
  • Research
    • Overview
    • Meet Our Scientists
      • Our Faculty
      • Our Scientific Staff
    • Camden Cancer Research Center
    • Epigenetic Therapies SPORE
    • Core Facilities
    • Epigenomics
    • Camden Opioid Research Initiative (CORI)
    • The Issa & Jelinek Lab
    • The Jian Huang Lab
    • The Luke Chen Lab
      • The Lab
      • The Team
      • Publications
    • The Scheinfeldt Lab
    • The Shumei Song Lab
    • The Nora Engel Lab
      • The Lab
      • The Team
      • Publications
    • Publications
  • Services
    • Overview
    • Biobanking Services
      • Core Services
      • Project Management
      • Research Support Services
      • Sample Cataloging
      • Sample Collection Kits
      • Sample Data Management
      • Sample Distribution
      • Sample Management
      • Sample Procurement
      • Sample Storage
    • Bioinformatics and Biostatistics Services
    • Cellular and Molecular Services
      • Biomarker Research Solutions
      • Cell Culture
      • Nucleic Acid Isolation and Quality Control
    • Clinical Trial Support
      • Overview
      • Sample Collection
      • Data Management
      • Sample Processing and QC
      • Storage and Distribution
      • Biomarker Services
      • Data Analaysis
    • Core Facilties
      • Overview
      • Animal and Xenograft
      • Bioinformatics and Biostatistics
      • Cell Imaging
      • CRISPR Gene Engineering
      • Flow Cytometry and Cell Sorting
      • Genomics and Epigenomics
      • iPSC - Induced Pluripotent Stem Cells
      • Organoids
    • Coriell Marketplace
    • Genomic, Epigenomic and Multiomics Services
    • Stem Cells and iPSC Services
      • Core Services
      • Reprogramming
      • Characterization and Quality Control
      • Differentiated Cell Lines
      • iPSC-Derived Organoids
      • iPSC Expansion
      • iPSC Gene Editing
  • Ordering
    • Stem Cells
    • Cell Lines
    • DNA and RNA
    • Featured Products
      • FFPE
      • HMW DNA
    • Genomic Data Search
    • Search by Catalog ID
    • Help
      • Create Account
      • Order Online
      • Ordering FAQ
      • FAQs/Culture Instructions
      • Reference Materials
        • Biobanks
        • NIGMS Repository
        • NHGRI Repository
        • NINDS Repository
        • NIA Repository
        • NIST
        • GeT-RM
      • Secondary Distribution Policies
      • MTA Assurance Form
      • Shipment Policy
      • Contact Customer Service
  • About Us
    • Our History
    • Meet Our Team
    • Meet Our Board
    • Education
      • Science Fair
      • Summer Experience
      • Outreach
      • Research Program Internship
    • Press Room
      • Press Releases
      • Coriell Blog
      • Annual Report
    • Careers
      • Working at Coriell
    • Giving
      • Donate
      • Giving FAQ
    • Contact Us
    • Legal Notice
  • Login View Cart
search submit
AG01972 Fibroblast from Skin, Thorax

Description:

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

Affected:

Yes

Sex:

Female

Age:

14 YR (At Sampling)

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

Overview

back to top
Repository NIA Aging Cell Culture Repository
Subcollection Heritable Diseases
Biopsy Source Thorax
Cell Type Fibroblast
Tissue Type Skin
Transformant Untransformed
Sample Source Fibroblast from Skin, Thorax
Race White
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Donor showed classic features of progeria. The biopsy was taken antemortem on 2/14/75 from skin of the thorax area. The culture was initiated using explants of minced skin tissue. The cell morphology is fibroblastlike. The karyotype is 46,XX; normal diploid female with 6% of cells examined showing random chromosome loss. 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

back to top
PDL at Freeze 5
Passage Frozen 12
 
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

back to top
Remarks Donor showed classic features of progeria. The biopsy was taken antemortem on 2/14/75 from skin of the thorax area. The culture was initiated using explants of minced skin tissue. The cell morphology is fibroblastlike. The karyotype is 46,XX; normal diploid female with 6% of cells examined showing random chromosome loss. 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

back to top
Li M, Zhong A, Wu Y, Sidharta M, Beaury M, Zhao X, Studer L, Zhou T, Transient inhibition of p53 enhances prime editing and cytosine base-editing efficiencies in human pluripotent stem cells Nature communications13:6354 2022
PubMed ID: 36302757
 
Jühlen R, Martinelli V, Vinci C, Breckpot J, Fahrenkrog B, Centrosome and ciliary abnormalities in fetal akinesia deformation sequence human fibroblasts Scientific reports10:19301 2020
PubMed ID: 33168876
 
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 communications10:19301 2020
PubMed ID: 32115145
 
Clements CS, Bikkul MU, Ofosu W, Eskiw C, Tree D, Makarov E, Kill IR, Bridger JM, Presence and distribution of progerin in HGPS cells is ameliorated by drugs that impact on the mevalonate and mTOR pathways Biogerontology20:337-358 2019
PubMed ID: 31041622
 
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 reports20:e49680 2019
PubMed ID: 32815283
 
Bikkul MU1, Clements CS1, Godwin LS1, Goldberg MW2, Kill IR1, Bridger JM, Farnesyltransferase inhibitor and rapamycin correct aberrant genome organisation and decrease DNA damage respectively, in Hutchinson-Gilford progeria syndrome fibroblasts Biogerontology20:e49680 2018
PubMed ID: 29907918
 
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 Cell20:e49680 2018
PubMed ID: 30565836
 
Li Y, Zhou G, Bruno IG, Zhang N, Sho S, Tedone E, Lai TP, Cooke JP, Shay JW, Transient introduction of human telomerase mRNA improves hallmarks of progeria cells Aging cell18:e12979 2018
PubMed ID: 31152494
 
Barcena C, Osorio FG, Freije JM, Detection of nuclear envelope alterations in senescence Methods Mol Biol965:243-51 2013
PubMed ID: 23296663
 
Kane MS, Lindsay ME, Judge DP, Barrowman J, Ap Rhys C, Simonson L, Dietz HC, Michaelis S, LMNA-associated cardiocutaneous progeria: an inherited autosomal dominant premature aging syndrome with late onset Am J Med Genet A161A(7):1599-611 2013
PubMed ID: 23666920
 
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
 
Nissan X, Blondel S, Navarro C, Maury Y, Denis C, Girard M, Martinat C, De Sandre-Giovannoli A, Levy N, Peschanski M, Unique preservation of neural cells in Hutchinson- Gilford progeria syndrome is due to the expression of the neural-specific miR-9 microRNA Cell reports2:1-9 2011
PubMed ID: 22840390
 
Ragnauth CD, Warren DT, Liu Y, McNair R, Tajsic T, Figg N, Shroff R, Skepper J, Shanahan CM, Prelamin A acts to accelerate smooth muscle cell senescence and is a novel biomarker of human vascular aging Circulation121:2200-10 2010
PubMed ID: 20458013
 
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
 
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
 
Huang S, Chen L, Libina N, Janes J, Martin GM, Campisi J, Oshima J, Correction of cellular phenotypes of Hutchinson-Gilford Progeria cells by RNA interference Human genetics118:444-50 2005
PubMed ID: 16208517
 
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
 
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
 
Goldman RD, Shumaker DK, Erdos MR, Eriksson M, Goldman AE, Gordon LB, Gruenbaum Y, Khuon S, Mendez M, Varga R, Collins FS, Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson-Gilford progeria syndrome. Proc Natl Acad Sci U S A101(24):8963-8 2004
PubMed ID: 15184648
 
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
 
Guernsey DL, Koebbe M, Thomas JE, Myerly TK, Zmolek D, An altered response in the induction of cell membrane (Na + K)ATPase by thyroid hormone is characteristic of senescence in cultured human fibroblasts. Mech Ageing Dev33:283-93 1986
PubMed ID: 3012221
 
Conover CA, Dollar LA, Rosenfeld RG, Hintz RL, Somatomedin C-binding and action in fibroblasts from aged and progeric subjects. J Clin Endocrinol Metab60:685-91 1985
PubMed ID: 2579088
 
Weichselbaum RR, Nove J, Little JB, X-ray sensitivity of fifty-three human diploid fibroblast cell strains from patients with characterized genetic disorders. Cancer Res40:920-5 1980
PubMed ID: 7471105
 
Martin GM, Sprague CA, Epstein CJ, Replicative life-span of cultivated human cells. Effects of donor's age, tissue, and genotype. Lab Invest23:86-92 1970
PubMed ID: 5431223
 
Martin GM, Sprague CA, Epstein CJ, Replicative life-span of cultivated human cells. Effects of donor's age, tissue, and genotype. Lab Invest23:86-92 1970
PubMed ID: 29931650

External Links

back to top
dbSNP dbSNP ID: 15492
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

Culture Protocols

back to top
Passage Frozen 12
Split Ratio 1:2
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
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
Supplement -
Pricing
Commercial:
$257.00USD
Academic &
Non-profit:
$103.00USD
NIA Grantees:
$47.00USD
Add to Cart
How to Order
  • Ordering Instructions
  • MTA / Assurance Form
  • Statement of Research Intent Form
Related Products
Same Subject
  • NG01972 - DNA
  • AG27221 - Stem cell
Miscellaneous
  • DNA on Demand
  • Custom Services

Our mission is to prevent and cure disease through biomedical research.

CONTACT US

CUSTOMER SERVICE
customerservice@coriell.org (800) 752-3805 • (856) 757-4848
Subscribe to our newsletter here

Coriell Institute for Medical Research
403 Haddon Avenue Camden, NJ 08103, USA (856) 966-7377

Ⓒ 2025 Coriell Institute. All rights reserved.

  • Facebook
  • Linkedin
  • Youtube