An integration-free iPSC line (SDQLCHi017-A) derived from a patient with nemaline myopathy-2 disease carrying compound heterozygote mutations in NEB gene


Nemaline myopathy-2 (NEM2) is an autosomal recessive skeletal muscle disorder caused by mutations in the nebulin (NEB) gene. We report the generation and characterization of a human induced pluripotent stem cell (iPSC) line SDQLCHi017-A, derived from a 1-month-old patient with NEM2 carrying compound heterozygote mutations (c.6915+1G>T, c.14910+3G>C) in NEB gene. The peripheral blood mononuclear cells (PBMCs) were reprogrammed with non-integrating episomal vectors coding OCT4, SOX2, KLF4, BCL-XL and MYC. The established iPSC line contained the same mutations found in the patient, showed a normal karyotype, could differentiate into cells of three germ layers in vitro and expressed pluripotency markers. Copyright © 2020. Published by Elsevier B.V.

Authors Ma Y, Zhang H, Li X, Yang X, Li Y, Guan J, Lv Y, Gai Z, Liu Y
Journal Stem cell research
Publication Date 2020 Mar;43:101729
PubMed 32062132
DOI 10.1016/j.scr.2020.101729

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