Generation and characterization of an iPSC line (SHCMDLi001-A) from a 12-year-old Chinese Han patient with TRAF7 syndrome and of an iPSC line (SHCMDLi002-A) from a control individual
Mutations in TRAF7 cause developmental delay and cardiac, facial, digital anomalies. c.1964G > A variant was most recurrent, suggesting its essentiality of pathogenicity. Further studies to determine the underlying mechanism of c.1964G > A variant are warranted. But no patient-specific cellula...
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2021-05-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506121002233 |
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doaj-2b015f4715a9487cbc3a51cf3aa447ea2021-05-30T04:41:51ZengElsevierStem Cell Research1873-50612021-05-0153102377Generation and characterization of an iPSC line (SHCMDLi001-A) from a 12-year-old Chinese Han patient with TRAF7 syndrome and of an iPSC line (SHCMDLi002-A) from a control individualXiaozhen Song0Jincai Feng1Xiaoping Lan2Xiaojun Tang3Wuhen Xu4Jun Shen5Guangjun Yu6Jia Jia7Hong Zhang8Qing Lu9Shengnan Wu10Molecular Diagnostic Laboratory, Shanghai Children’s Hospital, Shanghai Jiao Tong University, Shanghai, ChinaDepartment of Rehabilitation, Shanghai Children’s Hospital, Shanghai Jiao Tong University, Shanghai, ChinaMolecular Diagnostic Laboratory, Shanghai Children’s Hospital, Shanghai Jiao Tong University, Shanghai, ChinaMolecular Diagnostic Laboratory, Shanghai Children’s Hospital, Shanghai Jiao Tong University, Shanghai, ChinaMolecular Diagnostic Laboratory, Shanghai Children’s Hospital, Shanghai Jiao Tong University, Shanghai, ChinaDepartment of Pathology, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA, USADepartment of Shanghai Children’s Hospital, Shanghai Jiao Tong University, Shanghai, ChinaShanghai Engineering Research Center for Big Data in Pediatric Precision Medicine, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, ChinaMolecular Diagnostic Laboratory, Shanghai Children’s Hospital, Shanghai Jiao Tong University, Shanghai, ChinaBio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), Shanghai Jiao Tong University, Shanghai, China; Corresponding authors.Molecular Diagnostic Laboratory, Shanghai Children’s Hospital, Shanghai Jiao Tong University, Shanghai, China; Corresponding authors.Mutations in TRAF7 cause developmental delay and cardiac, facial, digital anomalies. c.1964G > A variant was most recurrent, suggesting its essentiality of pathogenicity. Further studies to determine the underlying mechanism of c.1964G > A variant are warranted. But no patient-specific cellular models have been generated. Here, we generated an iPSC line with c.1964G > A variant (SHCMDLi001-A) and a line from healthy individual (SHCMDLi002-A). Characterization of SHCMDLi001-A and SHCMDLi002-A demonstrated these iPSCs are free of exogenous reprogramming genes, expressed pluripotency markers, exhibited a normal karyotype and were potential of three germ layer differentiation. These lines provide a valuable resource for studying disease-causing mechanism of TRAF7 variant.http://www.sciencedirect.com/science/article/pii/S1873506121002233 |
| collection |
DOAJ |
| language |
English |
| format |
Article |
| sources |
DOAJ |
| author |
Xiaozhen Song Jincai Feng Xiaoping Lan Xiaojun Tang Wuhen Xu Jun Shen Guangjun Yu Jia Jia Hong Zhang Qing Lu Shengnan Wu |
| spellingShingle |
Xiaozhen Song Jincai Feng Xiaoping Lan Xiaojun Tang Wuhen Xu Jun Shen Guangjun Yu Jia Jia Hong Zhang Qing Lu Shengnan Wu Generation and characterization of an iPSC line (SHCMDLi001-A) from a 12-year-old Chinese Han patient with TRAF7 syndrome and of an iPSC line (SHCMDLi002-A) from a control individual Stem Cell Research |
| author_facet |
Xiaozhen Song Jincai Feng Xiaoping Lan Xiaojun Tang Wuhen Xu Jun Shen Guangjun Yu Jia Jia Hong Zhang Qing Lu Shengnan Wu |
| author_sort |
Xiaozhen Song |
| title |
Generation and characterization of an iPSC line (SHCMDLi001-A) from a 12-year-old Chinese Han patient with TRAF7 syndrome and of an iPSC line (SHCMDLi002-A) from a control individual |
| title_short |
Generation and characterization of an iPSC line (SHCMDLi001-A) from a 12-year-old Chinese Han patient with TRAF7 syndrome and of an iPSC line (SHCMDLi002-A) from a control individual |
| title_full |
Generation and characterization of an iPSC line (SHCMDLi001-A) from a 12-year-old Chinese Han patient with TRAF7 syndrome and of an iPSC line (SHCMDLi002-A) from a control individual |
| title_fullStr |
Generation and characterization of an iPSC line (SHCMDLi001-A) from a 12-year-old Chinese Han patient with TRAF7 syndrome and of an iPSC line (SHCMDLi002-A) from a control individual |
| title_full_unstemmed |
Generation and characterization of an iPSC line (SHCMDLi001-A) from a 12-year-old Chinese Han patient with TRAF7 syndrome and of an iPSC line (SHCMDLi002-A) from a control individual |
| title_sort |
generation and characterization of an ipsc line (shcmdli001-a) from a 12-year-old chinese han patient with traf7 syndrome and of an ipsc line (shcmdli002-a) from a control individual |
| publisher |
Elsevier |
| series |
Stem Cell Research |
| issn |
1873-5061 |
| publishDate |
2021-05-01 |
| description |
Mutations in TRAF7 cause developmental delay and cardiac, facial, digital anomalies. c.1964G > A variant was most recurrent, suggesting its essentiality of pathogenicity. Further studies to determine the underlying mechanism of c.1964G > A variant are warranted. But no patient-specific cellular models have been generated. Here, we generated an iPSC line with c.1964G > A variant (SHCMDLi001-A) and a line from healthy individual (SHCMDLi002-A). Characterization of SHCMDLi001-A and SHCMDLi002-A demonstrated these iPSCs are free of exogenous reprogramming genes, expressed pluripotency markers, exhibited a normal karyotype and were potential of three germ layer differentiation. These lines provide a valuable resource for studying disease-causing mechanism of TRAF7 variant. |
| url |
http://www.sciencedirect.com/science/article/pii/S1873506121002233 |
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