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

Summary

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. Copyright © 2021 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Zhang H, Zhang H, Ma Y, Lv Y, Gai Z, Liu Y
Journal Stem cell research
Publication Date 2021 Jan 8;51:102160
PubMed 33465529
DOI 10.1016/j.scr.2021.102160

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