Generation of an integration-free induced pluripotent stem cell line, FJMUi001-A, from a hereditary spastic paraplegia patient carrying compound heterozygous p.P498L and p.R618W mutations in CAPN1 (SPG76)

Summary

The human iPS cell line, hiPS-SPG76 (FJMUi001-A), derived from skin fibroblasts from a 42-year-old male hereditary spastic paraplegia patient carrying compound heterozygous p.P498L (c.1493C > T) and p.R618W (c.1852C > T) mutations in the CAPN1 gene, was generated by non-integrative reprogramming vectors encoding OCT3/4, SOX2, KLF4, and c-MYC. The established hiPS-SPG76 was free of genomically integrated reprogramming genes, had a normal karyotype, expressed pluripotency markers, and had capacity to form three germ layers in vitro and in vivo. This generated hiPS cell line offers a useful resource to study the pathogenesis of SPG76. Copyright © 2018 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Lu YQ, Dong EL, Yang WQ, Lai LL, Lin XH, Ma LX, Chen WJ, Wang N, Lin X
Journal Stem cell research
Publication Date 2018 Nov 27;34:101354
PubMed 30611022
DOI 10.1016/j.scr.2018.11.015

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