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

Nishka Mittal; Jaydev Dave; Magdalena Harakalova; J. Peter van Tintelen; Folkert W. Asselbergs; Pieter A. Doevendans; Kevin D. Costa; Irene C. Turnbull; Francesca Stillitano

doi:10.1016/j.scr.2022.102737

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

Nishka Mittal, Jaydev Dave, Magdalena Harakalova, J. Peter van Tintelen, Folkert W. Asselbergs, Pieter A. Doevendans, Kevin D. Costa, Irene C. Turnbull, Francesca Stillitano^*

^*Corresponding author for this work

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Abstract

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.

Original language	English
Article number	102737
Pages (from-to)	1-5
Journal	Stem Cell Research
Volume	60
DOIs	https://doi.org/10.1016/j.scr.2022.102737
Publication status	Published - Apr 2022

Keywords

Calcium-Binding Proteins/genetics
Cardiomyopathies/metabolism
Humans
Induced Pluripotent Stem Cells/metabolism
Leukocytes, Mononuclear/metabolism
Mutation

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1-s2.0-S1873506122000861-mainFinal published version, 2.14 MBLicence: CC BY-NC-ND

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Mittal, N., Dave, J., Harakalova, M., van Tintelen, J. P., Asselbergs, F. W., Doevendans, P. A., Costa, K. D., Turnbull, I. C., & Stillitano, F. (2022). 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. Stem Cell Research, 60, 1-5. Article 102737. https://doi.org/10.1016/j.scr.2022.102737

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title = "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",

abstract = "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.",

keywords = "Calcium-Binding Proteins/genetics, Cardiomyopathies/metabolism, Humans, Induced Pluripotent Stem Cells/metabolism, Leukocytes, Mononuclear/metabolism, Mutation",

author = "Nishka Mittal and Jaydev Dave and Magdalena Harakalova and {van Tintelen}, {J. Peter} and Asselbergs, {Folkert W.} and Doevendans, {Pieter A.} and Costa, {Kevin D.} and Turnbull, {Irene C.} and Francesca Stillitano",

note = "Funding Information: This work was supported by the Stem Cell Engineering CoRE Facility of Icahn School of Medicine at Mount Sinai. Publisher Copyright: {\textcopyright} 2022 The Authors",

year = "2022",

month = apr,

doi = "10.1016/j.scr.2022.102737",

language = "English",

volume = "60",

pages = "1--5",

journal = "Stem Cell Research",

issn = "1873-5061",

publisher = "Elsevier",

}

Mittal, N, Dave, J, Harakalova, M , van Tintelen, JP , Asselbergs, FW , Doevendans, PA, Costa, KD, Turnbull, IC & Stillitano, F 2022, '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', Stem Cell Research, vol. 60, 102737, pp. 1-5. https://doi.org/10.1016/j.scr.2022.102737

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 et al.
In: Stem Cell Research, Vol. 60, 102737, 04.2022, p. 1-5.

Research output: Contribution to journal › Article › Academic › peer-review

TY - JOUR

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AU - Mittal, Nishka

AU - Dave, Jaydev

AU - Harakalova, Magdalena

AU - van Tintelen, J. Peter

AU - Asselbergs, Folkert W.

AU - Doevendans, Pieter A.

AU - Costa, Kevin D.

AU - Turnbull, Irene C.

AU - Stillitano, Francesca

PY - 2022/4

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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.

KW - Calcium-Binding Proteins/genetics

KW - Cardiomyopathies/metabolism

KW - Humans

KW - Induced Pluripotent Stem Cells/metabolism

KW - Leukocytes, Mononuclear/metabolism

KW - Mutation

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SN - 1873-5061

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JO - Stem Cell Research

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M1 - 102737

ER -

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

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