Establishment of a human induced pluripotent stem cell line (SDQLCHi004-A) from a patient with nemaline myopathy-4 disease carrying heterozygous mutation in TPM2 gene


Nemaline myopathy-4 (NEM4) is a very rare inherited muscle disorder caused by a heterozygous mutation in tropomyosin-2 (TPM2) gene. We established an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells of a 3-month-old girl with NEM4 carrying a heterozygous mutation (c.397C>T (p.R133W)) in TPM2 gene. This iPSC line showed a normal karyotype, expressed pluripotency markers, showed differentiation potential and harbored the original mutation of c.397C>T in the TPM2 gene. Copyright © 2019 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Ma Y, Zhang H, Yang X, Li Y, Guan J, Lv Y, Li H, Liu Y, Gai Z
Journal Stem cell research
Publication Date 2019 Oct;40:101559
PubMed 31526942
DOI 10.1016/j.scr.2019.101559

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