PMID- 35247838 OWN - NLM STAT- MEDLINE DCOM- 20220415 LR - 20221202 IS - 1876-7753 (Electronic) IS - 1873-5061 (Linking) VI - 60 DP - 2022 Apr TI - 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. PG - 102737 LID - S1873-5061(22)00086-1 [pii] LID - 10.1016/j.scr.2022.102737 [doi] AB - 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. CI - Copyright (c) 2022 The Authors. Published by Elsevier B.V. All rights reserved. FAU - Mittal, Nishka AU - Mittal N AD - Cardiovascular Research Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA. FAU - Dave, Jaydev AU - Dave J AD - Cardiovascular Research Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA. FAU - Harakalova, Magdalena AU - Harakalova M AD - Department of Cardiology, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands; Regenerative Medicine Utrecht, Utrecht University, Utrecht, The Netherlands. FAU - van Tintelen, J Peter AU - van Tintelen JP AD - Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands. FAU - Asselbergs, Folkert W AU - Asselbergs FW AD - Department of Cardiology, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands. FAU - Doevendans, Pieter A AU - Doevendans PA AD - Department of Cardiology, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands; Netherlands Heart Foundation, Utrecht, The Netherlands. FAU - Costa, Kevin D AU - Costa KD AD - Cardiovascular Research Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA. FAU - Turnbull, Irene C AU - Turnbull IC AD - Cardiovascular Research Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA. FAU - Stillitano, Francesca AU - Stillitano F AD - Cardiovascular Research Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA. LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20220301 PL - England TA - Stem Cell Res JT - Stem cell research JID - 101316957 RN - 0 (Calcium-Binding Proteins) RN - 0 (phospholamban) SB - IM MH - Calcium-Binding Proteins/genetics MH - *Cardiomyopathies/metabolism MH - Humans MH - *Induced Pluripotent Stem Cells/metabolism MH - Leukocytes, Mononuclear/metabolism MH - Mutation EDAT- 2022/03/06 06:00 MHDA- 2022/04/16 06:00 CRDT- 2022/03/05 20:18 PHST- 2022/02/09 00:00 [received] PHST- 2022/02/20 00:00 [revised] PHST- 2022/02/26 00:00 [accepted] PHST- 2022/03/06 06:00 [pubmed] PHST- 2022/04/16 06:00 [medline] PHST- 2022/03/05 20:18 [entrez] AID - S1873-5061(22)00086-1 [pii] AID - 10.1016/j.scr.2022.102737 [doi] PST - ppublish SO - Stem Cell Res. 2022 Apr;60:102737. doi: 10.1016/j.scr.2022.102737. Epub 2022 Mar 1.