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
Zhou, T2
Lai, WH1
Huang, Y2
Chan, YC1
Li, X2
Wong, NLY1
Li, Y2
Au, KW1
Guo, D2
Xu, J2
Siu, CW1
Pei, D2
Tse, HF1
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
2011 Impact Factor: 5.127
PubMed Central IDPMC3117453
ReferencesReferences in Scopus
DC Field
Value
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
2011 Impact Factor: 5.127
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
Author Affiliations
  1. The University of Hong Kong
  2. Chinese Academy of Sciences