Generation of an iPSC line (SDQLCHi030-A) derived from PBMCs of a patient with Lesch-Nyhan syndrome caused by HPRT1 mutation
Summary
Lesch-Nyhan syndrome (LNS, MIM300322) is a rare inherited disorder caused by mutations in HPRT1 gene. Here we describe the generation of induced pluripotent stem cells (iPSCs) from an infected child carrying the HPRT1 mutation c.508C > T(p.R170X) by reprogramming peripheral blood mononuclear cells (PBMCs) with episomal vectors. The obtained hiPSCs exhibited normal karyotype, expressed pluripotency markers, and possessed trilineage differentiation capacity. Copyright © 2023 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Li Y, Zhang H, Guan J, Wang B, Zhang H, Liu Y, Gai Z |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Feb;74:103287 |
| PubMed | 38154384 |
| DOI | 10.1016/j.scr.2023.103287 |