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Article: Generation of induced pluripotent stem cell lines from 3 distinct laminopathies bearing heterogeneous mutations in lamin A/C
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TitleGeneration of induced pluripotent stem cell lines from 3 distinct laminopathies bearing heterogeneous mutations in lamin A/C
 
AuthorsHo, JCY1 1
Zhou, T2
Lai, WH1
Huang, Y2
Chan, YC1
Li, X2
Wong, NLY1
Li, Y2
Au, KW1
Guo, D2
Xu, J2
Siu, CW1 1
Pei, D2
Tse, HF1 1
Esteban, MA2
 
KeywordsAtypical Werner syndrome
Dilated cardiomyopathy
Hutchinson Gilford progeria
Induced pluripotent stem cells
Lamin A/C
Reprogramming
 
Issue Date2011
 
PublisherImpact Journals LLC. The Journal's web site is located at http://www.impactaging.com
 
CitationAging, 2011, v. 3 n. 4, p. 380-390 [How to Cite?]
 
AbstractThe term laminopathies defines a group of genetic disorders caused by defects in the nuclear envelope, mostly the lamins. Lamins are the main constituents of the nuclear lamina, a filamentous meshwork associated with the inner nuclear membrane that provides mechanical stability and plays important roles in processes such as transcription, DNA replication and chromatin organization. More than 300 mutations in lamin A/C have been associated with diverse clinical phenotypes, understanding the molecular basis of these diseases may provide a rationale for treating them. Here we describe the generation of induced pluripotent stem cells (iPSCs) from a patient with inherited dilated cardiomiopathy and 2 patients with distinct accelerated forms of aging, atypical Werner syndrome and Hutchinson Gilford progeria, all of which are caused by mutations in lamin A/C. These cell lines were pluripotent and displayed normal nuclear membrane morphology compared to donor fibroblasts. Their differentiated progeny reproduced the disease phenotype, reinforcing the idea that they represent excellent tools for understanding the role of lamin A/C in normal physiology and the clinical diversity associated with these diseases. © Ho et al.
 
ISSN1945-4589
2012 Impact Factor: 4.696
 
PubMed Central IDPMC3117453
 
ReferencesReferences in Scopus
 
DC FieldValue
dc.contributor.authorHo, JCY
 
dc.contributor.authorZhou, T
 
dc.contributor.authorLai, WH
 
dc.contributor.authorHuang, Y
 
dc.contributor.authorChan, YC
 
dc.contributor.authorLi, X
 
dc.contributor.authorWong, NLY
 
dc.contributor.authorLi, Y
 
dc.contributor.authorAu, KW
 
dc.contributor.authorGuo, D
 
dc.contributor.authorXu, J
 
dc.contributor.authorSiu, CW
 
dc.contributor.authorPei, D
 
dc.contributor.authorTse, HF
 
dc.contributor.authorEsteban, MA
 
dc.date.accessioned2011-06-17T09:20:36Z
 
dc.date.available2011-06-17T09:20:36Z
 
dc.date.issued2011
 
dc.description.abstractThe term laminopathies defines a group of genetic disorders caused by defects in the nuclear envelope, mostly the lamins. Lamins are the main constituents of the nuclear lamina, a filamentous meshwork associated with the inner nuclear membrane that provides mechanical stability and plays important roles in processes such as transcription, DNA replication and chromatin organization. More than 300 mutations in lamin A/C have been associated with diverse clinical phenotypes, understanding the molecular basis of these diseases may provide a rationale for treating them. Here we describe the generation of induced pluripotent stem cells (iPSCs) from a patient with inherited dilated cardiomiopathy and 2 patients with distinct accelerated forms of aging, atypical Werner syndrome and Hutchinson Gilford progeria, all of which are caused by mutations in lamin A/C. These cell lines were pluripotent and displayed normal nuclear membrane morphology compared to donor fibroblasts. Their differentiated progeny reproduced the disease phenotype, reinforcing the idea that they represent excellent tools for understanding the role of lamin A/C in normal physiology and the clinical diversity associated with these diseases. © Ho et al.
 
dc.description.naturepublished_or_final_version
 
dc.identifier.citationAging, 2011, v. 3 n. 4, p. 380-390 [How to Cite?]
 
dc.identifier.epage390
 
dc.identifier.hkuros185833
 
dc.identifier.issn1945-4589
2012 Impact Factor: 4.696
 
dc.identifier.issue4
 
dc.identifier.openurl
 
dc.identifier.pmcidPMC3117453
 
dc.identifier.pmid21483033
 
dc.identifier.scopuseid_2-s2.0-80052100421
 
dc.identifier.spage380
 
dc.identifier.urihttp://hdl.handle.net/10722/134437
 
dc.identifier.volume3
 
dc.languageeng
 
dc.publisherImpact Journals LLC. The Journal's web site is located at http://www.impactaging.com
 
dc.publisher.placeUnited States
 
dc.relation.ispartofAging
 
dc.relation.referencesReferences in Scopus
 
dc.subject.meshCardiomyopathy, Dilated - genetics
 
dc.subject.meshCell Line
 
dc.subject.meshInduced Pluripotent Stem Cells - cytology - physiology
 
dc.subject.meshLamin Type A - genetics
 
dc.subject.meshProgeria - genetics
 
dc.subjectAtypical Werner syndrome
 
dc.subjectDilated cardiomyopathy
 
dc.subjectHutchinson Gilford progeria
 
dc.subjectInduced pluripotent stem cells
 
dc.subjectLamin A/C
 
dc.subjectReprogramming
 
dc.titleGeneration of induced pluripotent stem cell lines from 3 distinct laminopathies bearing heterogeneous mutations in lamin A/C
 
dc.typeArticle
 
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Author Affiliations
  1. The University of Hong Kong
  2. Chinese Academy of Sciences