标题:An induced pluripotent stem cell line (SDQLCHi006-A) derived from a patient with maple syrup urine disease type Ib carrying compound heterozygous mutations of p.R168C and p.T322I in BCKDHB gene
作者:Li, Yue; Zhang, Haiyan; Yan, Beibei; Ma, Yanyan; Yang, Xiaomeng; Guan, Jingyun; Lv, Yuqiang; Gao, Min; Ma, Jian; Gai, Zhongtao; Li 更多
作者机构:[Li, Yue; Zhang, Haiyan; Ma, Yanyan; Yang, Xiaomeng; Guan, Jingyun; Lv, Yuqiang; Gao, Min; Ma, Jian; Gai, Zhongtao; Liu, Yi] Shandong Univ, Pediat Res 更多
通讯作者:Liu, Y
通讯作者地址:[Liu, Y]Shandong Univ, Pediat Res Inst, Qilu Childrens Hosp, Jinan 250022, Shandong, Peoples R China.
来源:STEM CELL RESEARCH
出版年:2019
卷:40
DOI:10.1016/j.scr.2019.101579
摘要:Maple syrup urine disease type Ib (MSUD Ib) is an autosomal recessive genetic metabolic disease caused by homozygous or compound heterozygous mutation in BCKDHB on chromosome 6q14. We generated an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells (PBMCs) of a 5-day-old boy with MSUD Ib carrying compound heterozygous mutations of c.502C > T/p.R168C and c.965C > T/p.T322I in BCKDHB. The iPSCs had normal karyotype, expressed pluripotency markers, free of genomically integrated episomal plasmids and demonstrated trilineage differentiation potential in vitro.
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-s2.0-85073020305&doi=10.1016%2fj.scr.2019.101579&partnerID=40&md5=4e077673b92ca4ed1d1c86f142b17565
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