Generation of human embryonic stem cells from abnormal blastocyst diagnosed with adrenoleukodystrophy

Qi Ouyang; Xiaoying Zhou; Jing Chen; Juan Du; Guangxiu Lu; Ge Lin; Yi Sun

doi:10.1016/j.scr.2016.11.003

Generation of human embryonic stem cells from abnormal blastocyst diagnosed with adrenoleukodystrophy

Stem Cell Res. 2016 Nov;17(3):634-636. doi: 10.1016/j.scr.2016.11.003. Epub 2016 Nov 9.

Authors

Qi Ouyang¹, Xiaoying Zhou², Jing Chen³, Juan Du⁴, Guangxiu Lu⁵, Ge Lin⁶, Yi Sun⁷

Affiliations

¹ Institute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, China; National Engineering and Research Center of Human Stem Cell, Changsha, China; Key Laboratory of Stem Cells and Reproductive Engineering, Ministry of Health, Changsha, China.
² National Engineering and Research Center of Human Stem Cell, Changsha, China.
³ Institute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, China.
⁴ Institute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, China; Key Laboratory of Stem Cells and Reproductive Engineering, Ministry of Health, Changsha, China; Reproductive & Genetic Hospital of CITIC-Xiangya, Changsha, China.
⁵ National Engineering and Research Center of Human Stem Cell, Changsha, China; Key Laboratory of Stem Cells and Reproductive Engineering, Ministry of Health, Changsha, China; Reproductive & Genetic Hospital of CITIC-Xiangya, Changsha, China.
⁶ Institute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, China; National Engineering and Research Center of Human Stem Cell, Changsha, China; Key Laboratory of Stem Cells and Reproductive Engineering, Ministry of Health, Changsha, China; Reproductive & Genetic Hospital of CITIC-Xiangya, Changsha, China.
⁷ Institute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, China; National Engineering and Research Center of Human Stem Cell, Changsha, China; Key Laboratory of Stem Cells and Reproductive Engineering, Ministry of Health, Changsha, China. Electronic address: sunyi66@csu.edu.cn.

PMID: 27934597
DOI: 10.1016/j.scr.2016.11.003

Abstract

Human embryonic stem cell (hESC) line chHES-480 was derived from abnormal blastocyst diagnosed with adrenoleukodystrophy (ALD) after preimplantation genetic diagnosis (PGD) treatment. DNA sequencing analysis confirmed that chHES-480 cell line carried a hemizygous missense mutation c.1825G>A(p.Glu609Lys) of ABCD1 gene. Characteristic tests proved that the chHES-480 cell line presented typical markers of pluripotency and had the capability to form the three germ layers both in vitro and in vivo.

MeSH terms

ATP Binding Cassette Transporter, Subfamily D, Member 1 / genetics
Adrenoleukodystrophy / diagnosis*
Adrenoleukodystrophy / genetics
Animals
Base Sequence
Blastocyst / cytology
Cell Differentiation
Cell Line
Cellular Reprogramming
DNA Mutational Analysis
Embryoid Bodies / cytology
Embryoid Bodies / metabolism
Female
Human Embryonic Stem Cells / cytology*
Human Embryonic Stem Cells / metabolism
Human Embryonic Stem Cells / transplantation
Humans
Karyotype
Mice
Mice, SCID
Plasmids / genetics
Plasmids / metabolism
Polymorphism, Single Nucleotide
Teratoma / pathology

Substances

ABCD1 protein, human
ATP Binding Cassette Transporter, Subfamily D, Member 1