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

Xiaozhen Song; Jincai Feng; Xiaoping Lan; Xiaojun Tang; Wuhen Xu; Jun Shen; Guangjun Yu; Jia Jia; Hong Zhang; Qing Lu; Shengnan Wu

Stem Cell Research (May 2021)

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

Xiaozhen Song,
Jincai Feng,
Xiaoping Lan,
Xiaojun Tang,
Wuhen Xu,
Jun Shen,
Guangjun Yu,
Jia Jia,
Hong Zhang,
Qing Lu,
Shengnan Wu

Affiliations

Xiaozhen Song: Molecular Diagnostic Laboratory, Shanghai Children’s Hospital, Shanghai Jiao Tong University, Shanghai, China
Jincai Feng: Department of Rehabilitation, Shanghai Children’s Hospital, Shanghai Jiao Tong University, Shanghai, China
Xiaoping Lan: Molecular Diagnostic Laboratory, Shanghai Children’s Hospital, Shanghai Jiao Tong University, Shanghai, China
Xiaojun Tang: Molecular Diagnostic Laboratory, Shanghai Children’s Hospital, Shanghai Jiao Tong University, Shanghai, China
Wuhen Xu: Molecular Diagnostic Laboratory, Shanghai Children’s Hospital, Shanghai Jiao Tong University, Shanghai, China
Jun Shen: Department of Pathology, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA, USA
Guangjun Yu: Department of Shanghai Children’s Hospital, Shanghai Jiao Tong University, Shanghai, China
Jia Jia: Shanghai Engineering Research Center for Big Data in Pediatric Precision Medicine, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, China
Hong Zhang: Molecular Diagnostic Laboratory, Shanghai Children’s Hospital, Shanghai Jiao Tong University, Shanghai, China
Qing Lu: Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), Shanghai Jiao Tong University, Shanghai, China; Corresponding authors.
Shengnan Wu: Molecular Diagnostic Laboratory, Shanghai Children’s Hospital, Shanghai Jiao Tong University, Shanghai, China; Corresponding authors.

Journal volume & issue: Vol. 53
p. 102377

Abstract

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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.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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