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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

Authors
Hong, W.Yun, W.Choi, W.Son, D.Song, G.You, S.
Issue Date
Apr-2021
Publisher
Elsevier B.V.
Citation
Stem Cell Research, v.52
Indexed
SCIE
SCOPUS
Journal Title
Stem Cell Research
Volume
52
URI
https://scholar.korea.ac.kr/handle/2021.sw.korea/128999
DOI
10.1016/j.scr.2021.102244
ISSN
1873-5061
1876-7753
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. © 2021 The Authors
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