Generation of an iPSC line (SDQLCHi030-A) derived from PBMCs of a patient with Lesch-Nyhan syndrome caused by HPRT1 mutation

Yue Li; Huawei Zhang; Jingyun Guan; Bin Wang; Haiyan Zhang; Yi Liu; Zhongtao Gai

doi:10.1016/j.scr.2023.103287

Stem Cell Research (Feb 2024)

Generation of an iPSC line (SDQLCHi030-A) derived from PBMCs of a patient with Lesch-Nyhan syndrome caused by HPRT1 mutation

Yue Li,
Huawei Zhang,
Jingyun Guan,
Bin Wang,
Haiyan Zhang,
Yi Liu,
Zhongtao Gai

Affiliations

Yue Li: Pediatric Research Institute, Children’s Hospital Affiliated to Shandong University (Jinan Children’s Hospital), Jinan, Shandong 250022, China; Shandong Provincial Clinical Research Center for Children’s Health and Disease, Jinan, 250022, China
Huawei Zhang: Rehabilitation Center, Children’s Hospital Affiliated to Shandong University (Jinan Children’s Hospital), Jinan, Shandong 250022, China
Jingyun Guan: Pediatric Research Institute, Children’s Hospital Affiliated to Shandong University (Jinan Children’s Hospital), Jinan, Shandong 250022, China; Shandong Provincial Clinical Research Center for Children’s Health and Disease, Jinan, 250022, China
Bin Wang: Pediatric Research Institute, Children’s Hospital Affiliated to Shandong University (Jinan Children’s Hospital), Jinan, Shandong 250022, China; Shandong Provincial Clinical Research Center for Children’s Health and Disease, Jinan, 250022, China
Haiyan Zhang: Pediatric Research Institute, Children’s Hospital Affiliated to Shandong University (Jinan Children’s Hospital), Jinan, Shandong 250022, China; Shandong Provincial Clinical Research Center for Children’s Health and Disease, Jinan, 250022, China; Corresponding authors at: Pediatric Research Institute, Children’s Hospital Affiliated to Shandong University (Jinan Children’s Hospital), Jinan, Shandong 250022, China.
Yi Liu: Pediatric Research Institute, Children’s Hospital Affiliated to Shandong University (Jinan Children’s Hospital), Jinan, Shandong 250022, China; Shandong Provincial Clinical Research Center for Children’s Health and Disease, Jinan, 250022, China; Corresponding authors at: Pediatric Research Institute, Children’s Hospital Affiliated to Shandong University (Jinan Children’s Hospital), Jinan, Shandong 250022, China.
Zhongtao Gai: Pediatric Research Institute, Children’s Hospital Affiliated to Shandong University (Jinan Children’s Hospital), Jinan, Shandong 250022, China; Shandong Provincial Clinical Research Center for Children’s Health and Disease, Jinan, 250022, China

DOI: https://doi.org/10.1016/j.scr.2023.103287
Journal volume & issue: Vol. 74
p. 103287

Abstract

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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.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.sciencedirect.com/journal/stem-cell-research

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