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Description:

HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS
LAMIN A/C; LMNA
NIA AGING CELL REPOSITORY DNA PANEL - AGING SYNDROMES

Affected:

No Data

Gender

No Data

Age:

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

Overview

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Repository No Data
Subcollection Heritable Diseases
License Required No Data
Sample Source No Data
Subject Type No Data
Family Type No Data
Ethnicity No Data
Family Member No Data
Genetic Data No Data

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed 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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No data is available

Publications

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Bracci AN, Dallmann A, Ding Q, Hubisz MJ, Caballero M, Koren A, The evolution of the human DNA replication timing program Proceedings of the National Academy of Sciences of the United States of America120:e2213896120 2023
PubMed ID: 36848554
 
Caballero M, Ge T, Rebelo AR, Seo S, Kim S, Brooks K, Zuccaro M, Kanagaraj R, Vershkov D, Kim D, Smogorzewska A, Smolka M, Benvenisty N, West SC, Egli D, Mace EM, Koren A, Comprehensive analysis of DNA replication timing across 184 cell lines suggests a role for MCM10 in replication timing regulation Human molecular genetics120:e2213896120 2021
PubMed ID: 35394024
 
Cao H, Hegele RA, LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090). J Hum Genet48(5):271-4 2003
PubMed ID: 12768443
 
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
 
Brown WT, Darlington GJ, Thermolabile enzymes in progeria and Werner syndrome: evidence contrary to the protein error hypothesis. Am J Hum Genet32:614-9 1980
PubMed ID: 6930821

External Links

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dbSNP dbSNP ID: 10066
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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Split Ratio 1:5
Temperature 37 C
Percent CO2 5%
Medium Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent
Serum 20% fetal bovine serum Not Inactivated
Substrate None specified
Subcultivation Method dilution - add fresh medium
Supplement -
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