Generation and characterization of novel induced pluripotent stem cell (iPSC) lines derived from three symptomatic carriers of a pathogenic MYH11 variant and two non-carrier relatives

Aria Atash; Maarten Jan Cramer; Barend Mees; Pieter A. Doevendans; Joost P.G. Sluijter; Francesca Stillitano

doi:10.1016/j.scr.2024.103630

Generation and characterization of novel induced pluripotent stem cell (iPSC) lines derived from three symptomatic carriers of a pathogenic MYH11 variant and two non-carrier relatives

Aria Atash, Maarten Jan Cramer, Barend Mees, Pieter A. Doevendans, Joost P.G. Sluijter, Francesca Stillitano^*

^*Corresponding author for this work

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

Abstract

A novel pathogenic variant in the MYH11 gene (c.4559+1G>A) leading to exon 32 skipping, is a rare cause of familial aortic aneurysms and dissections (fTAAD). The phenotype has proven highly variable with reduced penetrance. Here, we report human induced pluripotent stem cell (iPSC) lines, generated from peripheral blood mononuclear cells (PBMCs) of three variant carriers and two non-carrying family members. Each iPSC line exhibited typical iPSC morphology and expressed positive markers for pluripotency and tri-lineage differentiation. These cell lines offer a platform for in vitro investigation of the unknown fTAAD pathophysiology and testing of therapeutical agents for aneurysm growth attenuation.

Original language	English
Article number	103630
Number of pages	5
Journal	Stem Cell Research
Volume	82
DOIs	https://doi.org/10.1016/j.scr.2024.103630
Publication status	Published - 1 Feb 2025

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10.1016/j.scr.2024.103630Licence: CC BY

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title = "Generation and characterization of novel induced pluripotent stem cell (iPSC) lines derived from three symptomatic carriers of a pathogenic MYH11 variant and two non-carrier relatives",

abstract = "A novel pathogenic variant in the MYH11 gene (c.4559+1G>A) leading to exon 32 skipping, is a rare cause of familial aortic aneurysms and dissections (fTAAD). The phenotype has proven highly variable with reduced penetrance. Here, we report human induced pluripotent stem cell (iPSC) lines, generated from peripheral blood mononuclear cells (PBMCs) of three variant carriers and two non-carrying family members. Each iPSC line exhibited typical iPSC morphology and expressed positive markers for pluripotency and tri-lineage differentiation. These cell lines offer a platform for in vitro investigation of the unknown fTAAD pathophysiology and testing of therapeutical agents for aneurysm growth attenuation.",

author = "Aria Atash and Cramer, {Maarten Jan} and Barend Mees and Doevendans, {Pieter A.} and Sluijter, {Joost P.G.} and Francesca Stillitano",

note = "Funding Information: This work was supported by the ZonMw PSIDER-Heart grant (no 10250022110004), (to P.A.D. and J.P.G.S), the GEREMY project (European Union\u2019s Horizon Europe research and innovation program), (to P.A.D. and F.S.), and by the Stichting Proefdiervrij Funding Pilot Experiment (to A.A.). Publisher Copyright: {\textcopyright} 2024 The Authors",

year = "2025",

month = feb,

day = "1",

doi = "10.1016/j.scr.2024.103630",

language = "English",

volume = "82",

journal = "Stem Cell Research",

issn = "1873-5061",

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Generation and characterization of novel induced pluripotent stem cell (iPSC) lines derived from three symptomatic carriers of a pathogenic MYH11 variant and two non-carrier relatives. / Atash, Aria; Cramer, Maarten Jan; Mees, Barend et al.
In: Stem Cell Research, Vol. 82, 103630, 01.02.2025.

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

TY - JOUR

T1 - Generation and characterization of novel induced pluripotent stem cell (iPSC) lines derived from three symptomatic carriers of a pathogenic MYH11 variant and two non-carrier relatives

AU - Atash, Aria

AU - Cramer, Maarten Jan

AU - Mees, Barend

AU - Doevendans, Pieter A.

AU - Sluijter, Joost P.G.

AU - Stillitano, Francesca

N1 - Funding Information: This work was supported by the ZonMw PSIDER-Heart grant (no 10250022110004), (to P.A.D. and J.P.G.S), the GEREMY project (European Union\u2019s Horizon Europe research and innovation program), (to P.A.D. and F.S.), and by the Stichting Proefdiervrij Funding Pilot Experiment (to A.A.). Publisher Copyright: © 2024 The Authors

PY - 2025/2/1

Y1 - 2025/2/1

N2 - A novel pathogenic variant in the MYH11 gene (c.4559+1G>A) leading to exon 32 skipping, is a rare cause of familial aortic aneurysms and dissections (fTAAD). The phenotype has proven highly variable with reduced penetrance. Here, we report human induced pluripotent stem cell (iPSC) lines, generated from peripheral blood mononuclear cells (PBMCs) of three variant carriers and two non-carrying family members. Each iPSC line exhibited typical iPSC morphology and expressed positive markers for pluripotency and tri-lineage differentiation. These cell lines offer a platform for in vitro investigation of the unknown fTAAD pathophysiology and testing of therapeutical agents for aneurysm growth attenuation.

AB - A novel pathogenic variant in the MYH11 gene (c.4559+1G>A) leading to exon 32 skipping, is a rare cause of familial aortic aneurysms and dissections (fTAAD). The phenotype has proven highly variable with reduced penetrance. Here, we report human induced pluripotent stem cell (iPSC) lines, generated from peripheral blood mononuclear cells (PBMCs) of three variant carriers and two non-carrying family members. Each iPSC line exhibited typical iPSC morphology and expressed positive markers for pluripotency and tri-lineage differentiation. These cell lines offer a platform for in vitro investigation of the unknown fTAAD pathophysiology and testing of therapeutical agents for aneurysm growth attenuation.

U2 - 10.1016/j.scr.2024.103630

DO - 10.1016/j.scr.2024.103630

M3 - Article

SN - 1873-5061

VL - 82

JO - Stem Cell Research

JF - Stem Cell Research

M1 - 103630

ER -

Generation and characterization of novel induced pluripotent stem cell (iPSC) lines derived from three symptomatic carriers of a pathogenic MYH11 variant and two non-carrier relatives

Abstract

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