Generation and characterization of an induced pluripotent stem cell line SDQLCHi018-A from a congenital myasthenic syndrome patient carrying compound heterozygote mutations in RAPSN gene

Haiyan Zhang; Huawei Zhang; Yanyan Ma; Yuqiang Lv; Zhongtao Gai; Yi Liu

doi:10.1016/j.scr.2021.102160

Generation and characterization of an induced pluripotent stem cell line SDQLCHi018-A from a congenital myasthenic syndrome patient carrying compound heterozygote mutations in RAPSN gene

Stem Cell Res. 2021 Mar:51:102160. doi: 10.1016/j.scr.2021.102160. Epub 2021 Jan 8.

Authors

Haiyan Zhang¹, Huawei Zhang², Yanyan Ma¹, Yuqiang Lv¹, Zhongtao Gai¹, Yi Liu¹

Affiliations

¹ Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China.
² Rehabilitation Center, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China.

PMID: 33465529
DOI: 10.1016/j.scr.2021.102160

Abstract

Mutations in RAPSN are an important cause of congenital myasthenic syndrome (CMS). In this study, we generated an induced pluripotent stem cell line (iPSC) derived from a 14-day-old male CMS patient carrying compound heterozygote mutations (c.532-2A > G and c.264C > A/p.Asn88Lys) in RAPSN gene. The established iPSC line harboring the original mutations, possessing a normal karyotype, is able to differentiate into all three germ layers in vitro and expresses pluripotency markers.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Germ Layers
Heterozygote
Humans
Induced Pluripotent Stem Cells*
Male
Mutation
Myasthenic Syndromes, Congenital* / genetics