Generation of a CRISPR/Cas edited human induced pluripotent stem cell line DHMi005-A-1 carrying a patient-specific disease-causing point mutation in the TBX5 gene

Harald Lahm; Paul Heinrich; Elisabeth Zierler; Elda Dzilic; Irina Neb; Tatjana Luzius; Stefanie A. Doppler; Stephanie Schneider; Rüdiger Lange; Markus Krane; Martina Dreßen

doi:10.1016/j.scr.2022.102691

Generation of a CRISPR/Cas edited human induced pluripotent stem cell line DHMi005-A-1 carrying a patient-specific disease-causing point mutation in the TBX5 gene

Harald Lahm, Paul Heinrich, Elisabeth Zierler, Elda Dzilic, Irina Neb, Tatjana Luzius, Stefanie A. Doppler, Stephanie Schneider, Rüdiger Lange, Markus Krane, Martina Dreßen

TUM Emeriti of Excellence

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

4 Scopus citations

Abstract

A number of mutations in the human TBX5 gene have been described which cause Holt-Oram syndrome, a severe congenital disease associated with abnormalities in heart and upper limb development. We have used a prime-editing approach to introduce a patient-specific disease-causing TBX5 mutation (c.920_C > A) into an induced pluripotent stem cell (iPSC) line from a healthy donor. The resulting iPSC line provides a powerful tool to identify and analyze the biological and molecular impact of this specific TBX5 mutation in comparison to the isogenic control iPSC line during cardiac development.

Original language	English
Article number	102691
Journal	Stem Cell Research
Volume	60
DOIs	https://doi.org/10.1016/j.scr.2022.102691
State	Published - Apr 2022

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Lahm, H., Heinrich, P., Zierler, E., Dzilic, E., Neb, I., Luzius, T., Doppler, S. A., Schneider, S., Lange, R., Krane, M., & Dreßen, M. (2022). Generation of a CRISPR/Cas edited human induced pluripotent stem cell line DHMi005-A-1 carrying a patient-specific disease-causing point mutation in the TBX5 gene. Stem Cell Research, 60, Article 102691. https://doi.org/10.1016/j.scr.2022.102691

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title = "Generation of a CRISPR/Cas edited human induced pluripotent stem cell line DHMi005-A-1 carrying a patient-specific disease-causing point mutation in the TBX5 gene",

abstract = "A number of mutations in the human TBX5 gene have been described which cause Holt-Oram syndrome, a severe congenital disease associated with abnormalities in heart and upper limb development. We have used a prime-editing approach to introduce a patient-specific disease-causing TBX5 mutation (c.920_C > A) into an induced pluripotent stem cell (iPSC) line from a healthy donor. The resulting iPSC line provides a powerful tool to identify and analyze the biological and molecular impact of this specific TBX5 mutation in comparison to the isogenic control iPSC line during cardiac development.",

author = "Harald Lahm and Paul Heinrich and Elisabeth Zierler and Elda Dzilic and Irina Neb and Tatjana Luzius and Doppler, {Stefanie A.} and Stephanie Schneider and R{\"u}diger Lange and Markus Krane and Martina Dre{\ss}en",

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year = "2022",

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doi = "10.1016/j.scr.2022.102691",

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Lahm, H, Heinrich, P, Zierler, E, Dzilic, E, Neb, I, Luzius, T, Doppler, SA, Schneider, S, Lange, R , Krane, M & Dreßen, M 2022, 'Generation of a CRISPR/Cas edited human induced pluripotent stem cell line DHMi005-A-1 carrying a patient-specific disease-causing point mutation in the TBX5 gene', Stem Cell Research, vol. 60, 102691. https://doi.org/10.1016/j.scr.2022.102691

TY - JOUR

T1 - Generation of a CRISPR/Cas edited human induced pluripotent stem cell line DHMi005-A-1 carrying a patient-specific disease-causing point mutation in the TBX5 gene

AU - Lahm, Harald

AU - Heinrich, Paul

AU - Zierler, Elisabeth

AU - Dzilic, Elda

AU - Neb, Irina

AU - Luzius, Tatjana

AU - Doppler, Stefanie A.

AU - Schneider, Stephanie

AU - Lange, Rüdiger

AU - Krane, Markus

AU - Dreßen, Martina

PY - 2022/4

Y1 - 2022/4

N2 - A number of mutations in the human TBX5 gene have been described which cause Holt-Oram syndrome, a severe congenital disease associated with abnormalities in heart and upper limb development. We have used a prime-editing approach to introduce a patient-specific disease-causing TBX5 mutation (c.920_C > A) into an induced pluripotent stem cell (iPSC) line from a healthy donor. The resulting iPSC line provides a powerful tool to identify and analyze the biological and molecular impact of this specific TBX5 mutation in comparison to the isogenic control iPSC line during cardiac development.

AB - A number of mutations in the human TBX5 gene have been described which cause Holt-Oram syndrome, a severe congenital disease associated with abnormalities in heart and upper limb development. We have used a prime-editing approach to introduce a patient-specific disease-causing TBX5 mutation (c.920_C > A) into an induced pluripotent stem cell (iPSC) line from a healthy donor. The resulting iPSC line provides a powerful tool to identify and analyze the biological and molecular impact of this specific TBX5 mutation in comparison to the isogenic control iPSC line during cardiac development.

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DO - 10.1016/j.scr.2022.102691

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C2 - 35121196

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SN - 1873-5061

VL - 60

JO - Stem Cell Research

JF - Stem Cell Research

M1 - 102691

ER -

Generation of a CRISPR/Cas edited human induced pluripotent stem cell line DHMi005-A-1 carrying a patient-specific disease-causing point mutation in the TBX5 gene

Abstract

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