Generation of human induced pluripotent stem cell (hiPSC) lines derived from three patients carrying the pathogenic CRYAB (A527G) mutation and one non-carrier family member

Ilse R. Kelters; Devin Verbueken; Tess Beekink; Linda W. Van Laake; Joost P.G. Sluijter; Renee G.C. Maas; Jan W. Buikema

doi:10.1016/j.scr.2024.103497

Generation of human induced pluripotent stem cell (hiPSC) lines derived from three patients carrying the pathogenic CRYAB (A527G) mutation and one non-carrier family member

Ilse R. Kelters, Devin Verbueken, Tess Beekink, Linda W. Van Laake, Joost P.G. Sluijter, Renee G.C. Maas^*, Jan W. Buikema

^*Corresponding author for this work

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

Abstract

A newly identified pathogenic variant (A527G) in alpha B-crystallin (αB-crystallin) has been linked to congenital cataract and young-onset dilated cardiomyopathy (DCM) within a Dutch family, although the disease mechanism remains unclear. Four human induced pluripotent stem cell (hiPSC) clones were generated from three symptomatic patients carrying the A527G variant, and one healthy proband. Peripheral blood mononuclear cells (PBMCs) were reprogrammed using integration-free Sendai viral pluripotency vectors. The established hiPSCs clones exhibited regular ESC-like morphology, expression of pluripotency markers, and normal karyotyping. These hiPSC lines can facilitate future studies to understand the chaperone function and its role in DCM disease progression.

Original language	English
Article number	103497
Number of pages	4
Journal	Stem Cell Research
Volume	80
DOIs	https://doi.org/10.1016/j.scr.2024.103497
Publication status	Published - Oct 2024

Access to Document

10.1016/j.scr.2024.103497Licence: CC BY

1-s2.0-S1873506124001958-mainFinal published version, 3.24 MBLicence: CC BY

Cite this

Kelters, I. R., Verbueken, D., Beekink, T., Van Laake, L. W., Sluijter, J. P. G., Maas, R. G. C., & Buikema, J. W. (2024). Generation of human induced pluripotent stem cell (hiPSC) lines derived from three patients carrying the pathogenic CRYAB (A527G) mutation and one non-carrier family member. Stem Cell Research, 80, Article 103497. https://doi.org/10.1016/j.scr.2024.103497

@article{e77b1d417b0944d492b41d21d62c1288,

title = "Generation of human induced pluripotent stem cell (hiPSC) lines derived from three patients carrying the pathogenic CRYAB (A527G) mutation and one non-carrier family member",

abstract = "A newly identified pathogenic variant (A527G) in alpha B-crystallin (αB-crystallin) has been linked to congenital cataract and young-onset dilated cardiomyopathy (DCM) within a Dutch family, although the disease mechanism remains unclear. Four human induced pluripotent stem cell (hiPSC) clones were generated from three symptomatic patients carrying the A527G variant, and one healthy proband. Peripheral blood mononuclear cells (PBMCs) were reprogrammed using integration-free Sendai viral pluripotency vectors. The established hiPSCs clones exhibited regular ESC-like morphology, expression of pluripotency markers, and normal karyotyping. These hiPSC lines can facilitate future studies to understand the chaperone function and its role in DCM disease progression.",

author = "Kelters, {Ilse R.} and Devin Verbueken and Tess Beekink and {Van Laake}, {Linda W.} and Sluijter, {Joost P.G.} and Maas, {Renee G.C.} and Buikema, {Jan W.}",

note = "Publisher Copyright: {\textcopyright} 2024 The Author(s)",

year = "2024",

month = oct,

doi = "10.1016/j.scr.2024.103497",

language = "English",

volume = "80",

journal = "Stem Cell Research",

issn = "1873-5061",

publisher = "Elsevier",

}

TY - JOUR

T1 - Generation of human induced pluripotent stem cell (hiPSC) lines derived from three patients carrying the pathogenic CRYAB (A527G) mutation and one non-carrier family member

AU - Kelters, Ilse R.

AU - Verbueken, Devin

AU - Beekink, Tess

AU - Van Laake, Linda W.

AU - Sluijter, Joost P.G.

AU - Maas, Renee G.C.

AU - Buikema, Jan W.

PY - 2024/10

Y1 - 2024/10

N2 - A newly identified pathogenic variant (A527G) in alpha B-crystallin (αB-crystallin) has been linked to congenital cataract and young-onset dilated cardiomyopathy (DCM) within a Dutch family, although the disease mechanism remains unclear. Four human induced pluripotent stem cell (hiPSC) clones were generated from three symptomatic patients carrying the A527G variant, and one healthy proband. Peripheral blood mononuclear cells (PBMCs) were reprogrammed using integration-free Sendai viral pluripotency vectors. The established hiPSCs clones exhibited regular ESC-like morphology, expression of pluripotency markers, and normal karyotyping. These hiPSC lines can facilitate future studies to understand the chaperone function and its role in DCM disease progression.

AB - A newly identified pathogenic variant (A527G) in alpha B-crystallin (αB-crystallin) has been linked to congenital cataract and young-onset dilated cardiomyopathy (DCM) within a Dutch family, although the disease mechanism remains unclear. Four human induced pluripotent stem cell (hiPSC) clones were generated from three symptomatic patients carrying the A527G variant, and one healthy proband. Peripheral blood mononuclear cells (PBMCs) were reprogrammed using integration-free Sendai viral pluripotency vectors. The established hiPSCs clones exhibited regular ESC-like morphology, expression of pluripotency markers, and normal karyotyping. These hiPSC lines can facilitate future studies to understand the chaperone function and its role in DCM disease progression.

UR - http://www.scopus.com/inward/record.url?scp=85199186125&partnerID=8YFLogxK

U2 - 10.1016/j.scr.2024.103497

DO - 10.1016/j.scr.2024.103497

M3 - Article

AN - SCOPUS:85199186125

SN - 1873-5061

VL - 80

JO - Stem Cell Research

JF - Stem Cell Research

M1 - 103497

ER -

Generation of human induced pluripotent stem cell (hiPSC) lines derived from three patients carrying the pathogenic CRYAB (A527G) mutation and one non-carrier family member

Abstract

Access to Document

Other files and links

Cite this