Article
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 research - 1 Mar 2021
Zhang Haiyan, Zhang Huawei, Ma Yanyan, Lv Yuqiang, Gai Zhongtao, Liu Yi
Abstract excerpt
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...
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