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)

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)

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 com...

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Bibliographic Details
Main Authors: Xue Zhang, Zilong Li, Yi Liu, Hongmei Xin, Zhongtao Gai
Format: Article
Language:English
Published: Elsevier 2024-06-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506124000904

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