Generation of a WA14 hESC sub-line carrying a hemizygous ABCD1 (C.1696_1710 del) mutation introduced by CRISPR/Cas9 technology

Wonjun Hong; Wonjin Yun; Wonji Choi; Daryeon Son; Gwonhwa Song; Seungkwon You

doi:10.1016/j.scr.2021.102244

Generation of a WA14 hESC sub-line carrying a hemizygous ABCD1 (C.1696_1710 del) mutation introduced by CRISPR/Cas9 technology

Wonjun Hong, Wonjin Yun, Wonji Choi, Daryeon Son, Gwonhwa Song, Seungkwon You

Department of Biotechnology

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

Abstract

ATP-binding cassette transporter subfamily D member 1 (ABCD1) gene is a member of ABC transporter super family, which conduct peroxisomal import of very long chain fatty acid and crucial underlying factor that induces X-linked adrenoleukodystrophy (X-ALD) when the gene is defected. Here, we report the generation of a human embryonic stem cell sub-line harboring a hemizygous ABCD1 mutation (C.1696_1710 del) using CRISPR/Cas9 system. Established line expresses pluripotency marker genes, can be differentiated to three germ layers, and maintains a normal karyotype.

Original language	English
Article number	102244
Journal	Stem Cell Research
Volume	52
DOIs	https://doi.org/10.1016/j.scr.2021.102244
Publication status	Published - 2021 Apr

ASJC Scopus subject areas

Developmental Biology
Cell Biology

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title = "Generation of a WA14 hESC sub-line carrying a hemizygous ABCD1 (C.1696_1710 del) mutation introduced by CRISPR/Cas9 technology",

abstract = "ATP-binding cassette transporter subfamily D member 1 (ABCD1) gene is a member of ABC transporter super family, which conduct peroxisomal import of very long chain fatty acid and crucial underlying factor that induces X-linked adrenoleukodystrophy (X-ALD) when the gene is defected. Here, we report the generation of a human embryonic stem cell sub-line harboring a hemizygous ABCD1 mutation (C.1696_1710 del) using CRISPR/Cas9 system. Established line expresses pluripotency marker genes, can be differentiated to three germ layers, and maintains a normal karyotype.",

author = "Wonjun Hong and Wonjin Yun and Wonji Choi and Daryeon Son and Gwonhwa Song and Seungkwon You",

note = "Funding Information: This work was supported by the Bio & Medical Technology Development Program of the National Research Foundation of Korea funded by the Korea Ministry of Science, ICT & Future Planning (MSIP) NRF-2015M3A9B4071074 and Research of Korea Centers for Disease Control and Prevention 2020-ER6102-00. Publisher Copyright: {\textcopyright} 2021 The Authors",

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doi = "10.1016/j.scr.2021.102244",

language = "English",

volume = "52",

journal = "Stem Cell Research",

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AU - Choi, Wonji

AU - Son, Daryeon

AU - Song, Gwonhwa

AU - You, Seungkwon

N1 - Funding Information: This work was supported by the Bio & Medical Technology Development Program of the National Research Foundation of Korea funded by the Korea Ministry of Science, ICT & Future Planning (MSIP) NRF-2015M3A9B4071074 and Research of Korea Centers for Disease Control and Prevention 2020-ER6102-00. Publisher Copyright: © 2021 The Authors

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AB - ATP-binding cassette transporter subfamily D member 1 (ABCD1) gene is a member of ABC transporter super family, which conduct peroxisomal import of very long chain fatty acid and crucial underlying factor that induces X-linked adrenoleukodystrophy (X-ALD) when the gene is defected. Here, we report the generation of a human embryonic stem cell sub-line harboring a hemizygous ABCD1 mutation (C.1696_1710 del) using CRISPR/Cas9 system. Established line expresses pluripotency marker genes, can be differentiated to three germ layers, and maintains a normal karyotype.

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Generation of a WA14 hESC sub-line carrying a hemizygous ABCD1 (C.1696_1710 del) mutation introduced by CRISPR/Cas9 technology

Abstract

ASJC Scopus subject areas

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