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
出版年:2019
卷:41
DOI:10.1016/j.scr.2019.101585
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.
收录类别:SCOPUS;SCIE
资源类型:期刊论文
原文链接:https://www.scopus.com/inward/record.uri?eid=2-s2.0-85075290520&doi=10.1016%2fj.scr.2019.101585&partnerID=40&md5=269b12f39342815007945ba7b1394292
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