Generation of mutation-corrected induced pluripotent stem cell lines derived from adrenoleukodystrophy patient by using homology directed repair

Eul Sik Jung; Ji Hun Kim; Mi Yoon Chang; Wonjun Hong; Zhejiu Quan; Seung Hyun Kim; Seungkwon You; Dae Sung Kim; Jiho Jang; Sang Hun Lee; Hyongbum Henry Kim; Hoon Chul Kang

doi:10.1016/j.scr.2022.102664

Generation of mutation-corrected induced pluripotent stem cell lines derived from adrenoleukodystrophy patient by using homology directed repair

Eul Sik Jung, Ji Hun Kim, Mi Yoon Chang, Wonjun Hong, Zhejiu Quan, Seung Hyun Kim, Seungkwon You, Dae Sung Kim, Jiho Jang, Sang Hun Lee, Hyongbum Henry Kim, Hoon Chul Kang

Department of Biotechnology

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

2 Citations (Scopus)

Abstract

X-linked adrenoleukodystrophy (ALD) caused by the ABCD1 mutation, is the most common inherited peroxisomal disease. Previously, we generated an ALD patient-derived SCHi001-A iPSC model. In this study, we have performed the first genome editing of ALD patient-derived SCHi001-A iPSCs using homology-directed repair (HDR). The mutation site, c.1534G > A [GenBank: NM_000033.4], was corrected by introducing ssODN and the CRISPR/Cas9 system. The cell line exhibited normal iPSC plulipotency marker expression following genome editing. Mutation-corrected iPSCs from SCHi001-A iPSC line can be used in research into the pathophysiology of and therapeutics for ALD.

Original language	English
Article number	102664
Journal	Stem Cell Research
Volume	59
DOIs	https://doi.org/10.1016/j.scr.2022.102664
Publication status	Published - 2022 Mar

Bibliographical note

Funding Information:
We thank MID (Medical Illustration & Design), a part of the Medical Research Support Services of Yonsei University College of Medicine, for all artistic support related to this work. This study was supported by the Team Science Award of Yonsei University College of Medicine (6-2021-0007) and a grant of the Korea Health Technology R&D Project through the Korea Health Industry Development Institute (KHIDI), funded by the Ministry of Health and Welfare, Republic of Korea (grant number: HI21C1659).

Publisher Copyright:
© 2022 The Authors

Keywords

CRISPR/Cas9
Genome editing
Induced pluripotent stem cell
X-linked adrenoleukodystrophy

ASJC Scopus subject areas

Developmental Biology
Cell Biology

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10.1016/j.scr.2022.102664

Cite this

Sik Jung, E., Hun Kim, J., Chang, M. Y., Hong, W., Quan, Z., Hyun Kim, S., You, S., Kim, D. S., Jang, J., Lee, S. H., Henry Kim, H., & Chul Kang, H. (2022). Generation of mutation-corrected induced pluripotent stem cell lines derived from adrenoleukodystrophy patient by using homology directed repair. Stem Cell Research, 59, Article 102664. https://doi.org/10.1016/j.scr.2022.102664

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title = "Generation of mutation-corrected induced pluripotent stem cell lines derived from adrenoleukodystrophy patient by using homology directed repair",

abstract = "X-linked adrenoleukodystrophy (ALD) caused by the ABCD1 mutation, is the most common inherited peroxisomal disease. Previously, we generated an ALD patient-derived SCHi001-A iPSC model. In this study, we have performed the first genome editing of ALD patient-derived SCHi001-A iPSCs using homology-directed repair (HDR). The mutation site, c.1534G > A [GenBank: NM_000033.4], was corrected by introducing ssODN and the CRISPR/Cas9 system. The cell line exhibited normal iPSC plulipotency marker expression following genome editing. Mutation-corrected iPSCs from SCHi001-A iPSC line can be used in research into the pathophysiology of and therapeutics for ALD.",

keywords = "CRISPR/Cas9, Genome editing, Induced pluripotent stem cell, X-linked adrenoleukodystrophy",

author = "{Sik Jung}, Eul and {Hun Kim}, Ji and Chang, {Mi Yoon} and Wonjun Hong and Zhejiu Quan and {Hyun Kim}, Seung and Seungkwon You and Kim, {Dae Sung} and Jiho Jang and Lee, {Sang Hun} and {Henry Kim}, Hyongbum and {Chul Kang}, Hoon",

note = "Funding Information: We thank MID (Medical Illustration & Design), a part of the Medical Research Support Services of Yonsei University College of Medicine, for all artistic support related to this work. This study was supported by the Team Science Award of Yonsei University College of Medicine (6-2021-0007) and a grant of the Korea Health Technology R&D Project through the Korea Health Industry Development Institute (KHIDI), funded by the Ministry of Health and Welfare, Republic of Korea (grant number: HI21C1659). Publisher Copyright: {\textcopyright} 2022 The Authors",

year = "2022",

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doi = "10.1016/j.scr.2022.102664",

language = "English",

volume = "59",

journal = "Stem Cell Research",

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AU - Hun Kim, Ji

AU - Chang, Mi Yoon

AU - Hong, Wonjun

AU - Quan, Zhejiu

AU - Hyun Kim, Seung

AU - You, Seungkwon

AU - Kim, Dae Sung

AU - Jang, Jiho

AU - Lee, Sang Hun

AU - Henry Kim, Hyongbum

AU - Chul Kang, Hoon

N1 - Funding Information: We thank MID (Medical Illustration & Design), a part of the Medical Research Support Services of Yonsei University College of Medicine, for all artistic support related to this work. This study was supported by the Team Science Award of Yonsei University College of Medicine (6-2021-0007) and a grant of the Korea Health Technology R&D Project through the Korea Health Industry Development Institute (KHIDI), funded by the Ministry of Health and Welfare, Republic of Korea (grant number: HI21C1659). Publisher Copyright: © 2022 The Authors

PY - 2022/3

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N2 - X-linked adrenoleukodystrophy (ALD) caused by the ABCD1 mutation, is the most common inherited peroxisomal disease. Previously, we generated an ALD patient-derived SCHi001-A iPSC model. In this study, we have performed the first genome editing of ALD patient-derived SCHi001-A iPSCs using homology-directed repair (HDR). The mutation site, c.1534G > A [GenBank: NM_000033.4], was corrected by introducing ssODN and the CRISPR/Cas9 system. The cell line exhibited normal iPSC plulipotency marker expression following genome editing. Mutation-corrected iPSCs from SCHi001-A iPSC line can be used in research into the pathophysiology of and therapeutics for ALD.

AB - X-linked adrenoleukodystrophy (ALD) caused by the ABCD1 mutation, is the most common inherited peroxisomal disease. Previously, we generated an ALD patient-derived SCHi001-A iPSC model. In this study, we have performed the first genome editing of ALD patient-derived SCHi001-A iPSCs using homology-directed repair (HDR). The mutation site, c.1534G > A [GenBank: NM_000033.4], was corrected by introducing ssODN and the CRISPR/Cas9 system. The cell line exhibited normal iPSC plulipotency marker expression following genome editing. Mutation-corrected iPSCs from SCHi001-A iPSC line can be used in research into the pathophysiology of and therapeutics for ALD.

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Generation of mutation-corrected induced pluripotent stem cell lines derived from adrenoleukodystrophy patient by using homology directed repair

Abstract

Bibliographical note

Keywords

ASJC Scopus subject areas

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