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NG07091 DNA from LCL

Description:

MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA
LAMIN A/C; LMNA
NIA AGING CELL REPOSITORY DNA PANEL - AGING SYNDROMES

Affected:

Yes

Sex:

Female

Age:

28 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 Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source DNA from LCL
Race White
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks The donor displays the following clinical signs: short stature, alopecia, severe osteoporosis with resorption of clavicles and upper ribs, multiple fractures, typical facies, and dystrophic nails with resorption of distal phalanges. Unusual features are absence of coronary artery occlusions at age 28, and monthly menses since age 15. Parents and seven sibs are clinically unaffected. The blood specimen was obtained ante-mortem. The culture was initiated on 10/12/83 by transformation with Epstein-Barr virus. The culture grows in suspension, and the cell morphology is spherical. Donor subject is a compound heterozygote: one allele carries an Arg471 to Cys mutation [Arg471Cys (R471C)] in exon 8 of the Lamin A gene (LMNA) resulting from a 1623C>T transition; the second allele has a C>T transition at nucleotide 1791 (1791C>T) resulting in an Arg-to-Cys substitution at codon 527 in exon 9 [Arg527Cys (R527C)].

Characterizations

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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 150330.0025; MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY
Identified Mutation ARG471CYS; Description: In a patient who was thought to have a typical progeria phenotype (176670) and was 28 years old at the time that DNA was obtained, Cao and Hegele [J. Hum. Genet. 48: 271-274 (2003)] identified compound heterozygosity for 2 missense mutations in the LMNA gene. One mutation, arg471 to cys (R471C), resulted from a 1623C>T transition. An arg527cys (R527C) substitution (150330.0026), resulting from a 1791C>T transition, was found on the other allele. These mutations were not identified in any of 100 control chromosomes.
 
Gene LMNA
Chromosomal Location 1q21.2
Allelic Variant 2 150330.0026; MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY
Identified Mutation ARG527CYS; Description: See 150330.0025, Cao and Hegele [J. Hum. Genet. 48: 271-274 (2003)] and Brown (2004).

Phenotypic Data

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Remarks The donor displays the following clinical signs: short stature, alopecia, severe osteoporosis with resorption of clavicles and upper ribs, multiple fractures, typical facies, and dystrophic nails with resorption of distal phalanges. Unusual features are absence of coronary artery occlusions at age 28, and monthly menses since age 15. Parents and seven sibs are clinically unaffected. The blood specimen was obtained ante-mortem. The culture was initiated on 10/12/83 by transformation with Epstein-Barr virus. The culture grows in suspension, and the cell morphology is spherical. Donor subject is a compound heterozygote: one allele carries an Arg471 to Cys mutation [Arg471Cys (R471C)] in exon 8 of the Lamin A gene (LMNA) resulting from a 1623C>T transition; the second allele has a C>T transition at nucleotide 1791 (1791C>T) resulting in an Arg-to-Cys substitution at codon 527 in exon 9 [Arg527Cys (R527C)].

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
 
Narisu N, Rothwell R, Vrtacnik P, Rodríguez S, Didion J, Zöllner S, Erdos MR, Collins FS, Eriksson M, Analysis of somatic mutations identifies signs of selection during in vitro aging of primary dermal fibroblasts Aging cell120:e13010 2018
PubMed ID: 31385397
 
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

External Links

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dbSNP dbSNP ID: 10129
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
248370 MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA
OMIM 150330 LAMIN A/C; LMNA
248370 MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA
Omim Description CRANIOMANDIBULAR DERMATODYSOSTOSIS
  MANDIBULOACRAL DYSPLASIA; MAD
Pricing
Commercial:
$155.00USD
Academic &
Non-profit:
$72.00USD
NIA Grantees:
$62.00USD
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