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AG00989 Fibroblast from Skin, Skin

Description:

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

Affected:

Yes

Sex:

Male

Age:

20 YR (At Sampling)

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

Overview

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Repository NIA Aging Cell Culture Repository
Subcollection Heritable Diseases
Biopsy Source Skin
Cell Type Fibroblast
Tissue Type Skin
Transformant Untransformed
Sample Source Fibroblast from Skin, Skin
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
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.

Characterizations

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PDL at Freeze 4.65
Passage Frozen 2
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by LINE assay
 
Gene LMNA
Chromosomal Location 1q21.2
Allelic Variant 1 R644C; HUTCHINSON-GILFORD PROGERIA SYNDROME
Identified Mutation ARG644CYS

Phenotypic Data

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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.

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
 
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
 
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
 
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
 
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
 
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

External Links

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dbSNP dbSNP ID: 19546
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
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

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Passage Frozen 2
Split Ratio 1:2
Temperature 37 C
Percent CO2 5%
Percent O2 3%
Medium Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM 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
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