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)
Summary
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. Copyright © 2024 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Zhang X, Li Z, Liu Y, Xin H, Gai Z |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Jun;77:103392 |
| PubMed | 38492469 |
| DOI | 10.1016/j.scr.2024.103392 |