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

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 t...

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Published inStem cell research Vol. 52; p. 102244
Main Authors Hong, Wonjun, Yun, Wonjin, Choi, Wonji, Son, Daryeon, Song, Gwonhwa, You, Seungkwon
Format Journal Article
LanguageEnglish
Published England Elsevier B.V 01.04.2021
Elsevier
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Summary: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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ISSN:1873-5061
1876-7753
DOI:10.1016/j.scr.2021.102244