Generation of human embryonic stem cells from abnormal blastocyst diagnosed with albinism
- Sun, Yi
- Zhou, Xiaoying
- Chen, Jing
- Du, Juan
- Lu, Guangxiu
- Lin, Ge
- Ouyang, Qi
Publication date
November 2016
DOI Publisher
The Authors. Published by Elsevier B.V. ISSN
1873-5061Abstract
AbstractHuman embryonic stem cell (hESC) line chHES-478 was derived from abnormal blastocyst diagnosed with albinism after preimplantation genetic diagnosis (PGD) treatment. DNA sequencing analysis confirmed that chHES-478 cell line carried a compound heterozygous mutation, c.896G>A(p.Arg299His) and c.929_930insC(p.Pro310Glnfs*9), of TYR gene. Characteristic tests proved that the chHES-478 cell line presented typical markers of pluripotency and had the capability to form the three germ layers both in vitro and in vivo
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