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Generation of human induced pluripotent stem cell (iPSC) lines derived from five patients carrying the pathogenic phospholamban-R14del (PLN-R14del) variant and three non-carrier family members.
Mittal, Nishka; Dave, Jaydev; Harakalova, Magdalena; van Tintelen, J Peter; Asselbergs, Folkert W; Doevendans, Pieter A; Costa, Kevin D; Turnbull, Irene C; Stillitano, Francesca.
Afiliação
  • Mittal N; Cardiovascular Research Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Dave J; Cardiovascular Research Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Harakalova M; Department of Cardiology, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands; Regenerative Medicine Utrecht, Utrecht University, Utrecht, The Netherlands.
  • van Tintelen JP; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
  • Asselbergs FW; Department of Cardiology, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
  • Doevendans PA; Department of Cardiology, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands; Netherlands Heart Foundation, Utrecht, The Netherlands.
  • Costa KD; Cardiovascular Research Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Turnbull IC; Cardiovascular Research Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Stillitano F; Cardiovascular Research Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Stem Cell Res ; 60: 102737, 2022 04.
Article em En | MEDLINE | ID: mdl-35247838
The R14del pathogenic variant in the phospholamban (PLN) gene (PLN-R14del), has been identified in families with hereditary cardiomyopathy, including dilated and arrhythmogenic cardiomyopathies. Here we have generated human iPSC lines from five PLN-R14del carriers and three non-carrier family members. Peripheral blood mononuclear cells (PBMC) were obtained from the eight individuals and reprogrammed using Sendai viral vector system carrying the Yamanaka factors. All eight lines show typical iPSC morphology, normal karyotype, high expression of pluripotency markers, and possess the ability to differentiate into all three germ layers. These lines represent valuable resources for studying the pathophysiological mechanisms of PLN-R14del associated cardiomyopathy.
Assuntos

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Células-Tronco Pluripotentes Induzidas / Cardiomiopatias Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Células-Tronco Pluripotentes Induzidas / Cardiomiopatias Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article