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....
| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2019-10-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506119301898 |
| _version_ | 1819076210730205184 |
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| author | Yanyan Ma Haiyan Zhang Xiaomeng Yang Yue Li Jingyun Guan Yuqiang Lv Hongying Li Yi Liu Zhongtao Gai |
| author_facet | Yanyan Ma Haiyan Zhang Xiaomeng Yang Yue Li Jingyun Guan Yuqiang Lv Hongying Li Yi Liu Zhongtao Gai |
| author_sort | Yanyan Ma |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-21T18:37:41Z |
| format | Article |
| id | doaj.art-3701ccf718104789b764f24150fedb05 |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-12-21T18:37:41Z |
| publishDate | 2019-10-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-3701ccf718104789b764f24150fedb052022-12-21T18:54:06ZengElsevierStem Cell Research1873-50612019-10-0140Establishment of a human induced pluripotent stem cell line (SDQLCHi004-A) from a patient with nemaline myopathy-4 disease carrying heterozygous mutation in TPM2 geneYanyan Ma0Haiyan Zhang1Xiaomeng Yang2Yue Li3Jingyun Guan4Yuqiang Lv5Hongying Li6Yi Liu7Zhongtao Gai8Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, ChinaPediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, ChinaPediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, ChinaPediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, ChinaPediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, ChinaPediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, ChinaEndocrinology Department, Qilu Children's Hospital of Shandong University, Jinan, Shangdong 250022, ChinaPediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China; Corresponding authors.Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China; Corresponding authors.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.http://www.sciencedirect.com/science/article/pii/S1873506119301898 |
| spellingShingle | Yanyan Ma Haiyan Zhang Xiaomeng Yang Yue Li Jingyun Guan Yuqiang Lv Hongying Li Yi Liu Zhongtao Gai 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 Stem Cell Research |
| title | 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 |
| title_full | 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 |
| title_fullStr | 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 |
| title_full_unstemmed | 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 |
| title_short | 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 |
| title_sort | 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 |
| url | http://www.sciencedirect.com/science/article/pii/S1873506119301898 |
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