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

oleh: Haiyan Zhang, Huawei Zhang, Yanyan Ma, Yuqiang Lv, Zhongtao Gai, Yi Liu

Format: Article
Diterbitkan: Elsevier 2021-03-01

Deskripsi

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.