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Article: Generation of induced pluripotent stem cell lines from 3 distinct laminopathies bearing heterogeneous mutations in lamin A/C

TitleGeneration of induced pluripotent stem cell lines from 3 distinct laminopathies bearing heterogeneous mutations in lamin A/C
Authors
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
Citation
Aging, 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.
Persistent Identifierhttp://hdl.handle.net/10722/134437
ISSN
2014 Impact Factor: 6.432
PubMed Central ID
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorHo, JCYen_HK
dc.contributor.authorZhou, Ten_HK
dc.contributor.authorLai, WHen_HK
dc.contributor.authorHuang, Yen_HK
dc.contributor.authorChan, YCen_HK
dc.contributor.authorLi, Xen_HK
dc.contributor.authorWong, NLYen_HK
dc.contributor.authorLi, Yen_HK
dc.contributor.authorAu, KWen_HK
dc.contributor.authorGuo, Den_HK
dc.contributor.authorXu, Jen_HK
dc.contributor.authorSiu, CWen_HK
dc.contributor.authorPei, Den_HK
dc.contributor.authorTse, HFen_HK
dc.contributor.authorEsteban, MAen_HK
dc.date.accessioned2011-06-17T09:20:36Z-
dc.date.available2011-06-17T09:20:36Z-
dc.date.issued2011en_HK
dc.identifier.citationAging, 2011, v. 3 n. 4, p. 380-390en_HK
dc.identifier.issn1945-4589en_HK
dc.identifier.urihttp://hdl.handle.net/10722/134437-
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.en_HK
dc.languageengen_US
dc.publisherImpact Journals LLC. The Journal's web site is located at http://www.impactaging.comen_HK
dc.relation.ispartofAgingen_HK
dc.subjectAtypical Werner syndromeen_HK
dc.subjectDilated cardiomyopathyen_HK
dc.subjectHutchinson Gilford progeriaen_HK
dc.subjectInduced pluripotent stem cellsen_HK
dc.subjectLamin A/Cen_HK
dc.subjectReprogrammingen_HK
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.titleGeneration of induced pluripotent stem cell lines from 3 distinct laminopathies bearing heterogeneous mutations in lamin A/Cen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=1945-4589&volume=3&issue=4&spage=380&epage=390&date=2011&atitle=Generation+of+induced+pluripotent+stem+cell+lines+from+3+distinct+laminopathies+bearing+heterogeneous+mutations+in+lamin+A/C-
dc.identifier.emailChan, YC:yauchi@graduate.hku.hken_HK
dc.identifier.emailSiu, CW:cwdsiu@hkucc.hku.hken_HK
dc.identifier.emailTse, HF:hftse@hkucc.hku.hken_HK
dc.identifier.authorityChan, YC=rp01502en_HK
dc.identifier.authoritySiu, CW=rp00534en_HK
dc.identifier.authorityTse, HF=rp00428en_HK
dc.description.naturepublished_or_final_version-
dc.identifier.pmid21483033-
dc.identifier.pmcidPMC3117453-
dc.identifier.scopuseid_2-s2.0-80052100421en_HK
dc.identifier.hkuros185833en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-80052100421&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume3en_HK
dc.identifier.issue4en_HK
dc.identifier.spage380en_HK
dc.identifier.epage390en_HK
dc.identifier.isiWOS:000290230800012-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridHo, JCY=7402650173en_HK
dc.identifier.scopusauthoridZhou, T=36543304400en_HK
dc.identifier.scopusauthoridLai, WH=18434390500en_HK
dc.identifier.scopusauthoridHuang, Y=48661927000en_HK
dc.identifier.scopusauthoridChan, YC=7403676116en_HK
dc.identifier.scopusauthoridLi, X=48662273400en_HK
dc.identifier.scopusauthoridWong, NLY=48663288500en_HK
dc.identifier.scopusauthoridLi, Y=48662343900en_HK
dc.identifier.scopusauthoridAu, KW=9738204200en_HK
dc.identifier.scopusauthoridGuo, D=48661971900en_HK
dc.identifier.scopusauthoridXu, J=48663110500en_HK
dc.identifier.scopusauthoridSiu, CW=7006550690en_HK
dc.identifier.scopusauthoridPei, D=7102806599en_HK
dc.identifier.scopusauthoridTse, HF=7006070805en_HK
dc.identifier.scopusauthoridEsteban, MA=35591774300en_HK

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