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...
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2024-06-01
|
| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506124000904 |