标题：An integration-free iPSC line (SDQLCHi013-A) derived from a patient with maple syrup urine disease carrying compound heterozygote mutations in BCKDHA gene
作者：Zhang, Haiyan; Ma, Yanyan; Li, Xiaomei; Yang, Xiaomeng; Li, Yue; Guan, Jingyun; Dong, Rui; Gai, Zhongtao; Liu, Yi
作者机构：[Zhang, Haiyan; Ma, Yanyan; Yang, Xiaomeng; Li, Yue; Guan, Jingyun; Dong, Rui; Gai, Zhongtao; Liu, Yi] Shandong Univ, Qilu Childrens Hosp, Pediat Res 更多
通讯作者：Gai, ZT;Gai, ZT
通讯作者地址：[Gai, ZT]Shandong Univ, Qilu Childrens Hosp, Pediat Res Inst, Jinan 250022, Shandong, Peoples R China;[Gai, ZT]Shandong Univ, Qilu Childrens Hosp, Neo 更多
来源：STEM CELL RESEARCH
摘要：The human induced pluripotent stem cell (iPSC) line SDQLCHi013-A was generated from peripheral blood mononuclear cells of a 7-day-old infant, who was diagnosed with maple syrup urine disease and carried compound heterozygote mutations (c.1280_1282 delTGG and c.632C>T) in BCKDHA gene. Non-integrating episomal vectors coding OCT4, SOX2, KLF4, BCL-XL and MYC were used for reprogramming. The established iPSC line contained the same mutations found in the patient, possessed a normal karyotype, could differentiate into cells of three germ layers in vitro and expressed pluripotency markers.