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

Publication date: Available online 10 September 2019Source: Stem Cell ResearchAuthor(s): Yanyan Ma, Haiyan Zhang, Xiaomeng Yang, Yue Li, Jingyun Guan, Yuqiang Lv, Hongying Li, Yi Liu, Zhongtao GaiAbstractNemaline 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.
Source: Stem Cell Research - Category: Stem Cells Source Type: research