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Article: Generation of the human induced pluripotent stem cell (hiPSC) line PSMi002-A from a patient affected by the Jervell and Lange-Nielsen syndrome and carrier of two compound heterozygous mutations on the KCNQ1 gene

TitleGeneration of the human induced pluripotent stem cell (hiPSC) line PSMi002-A from a patient affected by the Jervell and Lange-Nielsen syndrome and carrier of two compound heterozygous mutations on the KCNQ1 gene
Authors
Mura, M.Lee, YKGinevrino, MZappatore, RPisano , FBoni , MDagradi , FCrotti, LValente, EMSchwartz, PJTse, HFGnecchi, M
Issue Date2018
PublisherElsevier BV. The Journal's web site is located at http://www.elsevier.com/wps/find/journaldescription.cws_home/711630/description#description
Citation
Stem Cell Research , 2018, v. 29, p. 157-161 How to Cite?
DOI: http://dx.doi.org/10.1016/j.scr.2018.04.002
AbstractWe report the generation of human induced pluripotent stem cells (hiPSCs) from dermal fibroblasts of a female patient carrier of the two compound heterozygous mutations c.568 C>T p.R190W (maternal allele), and c.1781 G>A p.R594Q (paternal allele) on the KCNQ1 gene, causing Jervell and Lange-Nielsen Syndrome (JLNS). To obtain hiPSCs, we used the classical approach of the four retroviruses each encoding for a reprogramming factor OCT4, SOX2, KLF4, cMYC. The obtained hiPSC clones display pluripotent stem cell characteristics, and differentiate into spontaneously beating cardiomyocytes (hiPSC-CMs).
Persistent Identifierhttp://hdl.handle.net/10722/259381
ISSN
1873-5061
2021 Impact Factor: 1.587
2020 SCImago Journal Rankings: 0.654
ISI Accession Number ID
WOS:000434978900026

 

DC FieldValueLanguage
dc.contributor.authorMura, M.-
dc.contributor.authorLee, YK-
dc.contributor.authorGinevrino, M-
dc.contributor.authorZappatore, R-
dc.contributor.authorPisano , F-
dc.contributor.authorBoni , M-
dc.contributor.authorDagradi , F-
dc.contributor.authorCrotti, L-
dc.contributor.authorValente, EM-
dc.contributor.authorSchwartz, PJ-
dc.contributor.authorTse, HF-
dc.contributor.authorGnecchi, M-
dc.date.accessioned2018-09-03T04:06:29Z-
dc.date.available2018-09-03T04:06:29Z-
dc.date.issued2018-
dc.identifier.citationStem Cell Research , 2018, v. 29, p. 157-161-
dc.identifier.issn1873-5061-
dc.identifier.urihttp://hdl.handle.net/10722/259381-
dc.description.abstractWe report the generation of human induced pluripotent stem cells (hiPSCs) from dermal fibroblasts of a female patient carrier of the two compound heterozygous mutations c.568 C>T p.R190W (maternal allele), and c.1781 G>A p.R594Q (paternal allele) on the KCNQ1 gene, causing Jervell and Lange-Nielsen Syndrome (JLNS). To obtain hiPSCs, we used the classical approach of the four retroviruses each encoding for a reprogramming factor OCT4, SOX2, KLF4, cMYC. The obtained hiPSC clones display pluripotent stem cell characteristics, and differentiate into spontaneously beating cardiomyocytes (hiPSC-CMs).-
dc.languageeng-
dc.publisherElsevier BV. The Journal's web site is located at http://www.elsevier.com/wps/find/journaldescription.cws_home/711630/description#description-
dc.relation.ispartofStem Cell Research-
dc.rightsThis work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.-
dc.titleGeneration of the human induced pluripotent stem cell (hiPSC) line PSMi002-A from a patient affected by the Jervell and Lange-Nielsen syndrome and carrier of two compound heterozygous mutations on the KCNQ1 gene-
dc.typeArticle-
dc.identifier.emailLee, YK: carol801@hku.hk-
dc.identifier.emailTse, HF: hftse@hkucc.hku.hk-
dc.identifier.authorityTse, HF=rp00428-
dc.description.naturepublished_or_final_version-
dc.identifier.doi10.1016/j.scr.2018.04.002-
dc.identifier.pmid29677589-
dc.identifier.scopuseid_2-s2.0-85045634250-
dc.identifier.hkuros288694-
dc.identifier.volume29-
dc.identifier.spage157-
dc.identifier.epage161-
dc.identifier.isiWOS:000434978900026-
dc.publisher.placeNetherlands-
dc.identifier.issnl1873-5061-

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