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)

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

doi:10.1016/j.scr.2024.103392

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 Res. 2024 Mar 14:77:103392. doi: 10.1016/j.scr.2024.103392. Online ahead of print.

Authors

Xue Zhang¹, Zilong Li², Yi Liu², Hongmei Xin², Zhongtao Gai²

Affiliations

¹ Children's Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China; The Second Hospital of Shandong University, Jinan, Shandong 250033, China.
² Children's Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China.

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

Abstract

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 normal karyotype, expressed pluripotency markers, were devoid of genomically integrated episomal plasmids, and demonstrated trilineage differentiation potential in vitro.