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Establishment of a non-integrated iPSC (SDQLCHi066-A) line derived from Segawa syndrome patients harboring heterozygous mutations in the TH gene (p.G247S and p.D491H).

Stem cell research - 1 Jun 2024

Zhang Xue, Li Zilong, Liu Yi, Xin Hongmei, Gai Zhongtao

Abstract excerpt

Segawa syndrome, an autosomal recessive genetic disorder, arises from homozygous or compound heterozygous mutations in the TH gene. We established an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells (PBMCs) of an 4-month-old girl with Segawa syndrome, who carried compound heterozygous mutations of c.739G > A/chr11:2188714 and c.1471G > C/chr11:2185579 in TH. The iPSCs displayed a...

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PMID: 38492469
DOI: 10.1016/j.scr.2024.103392

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