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

Publication date: Available online 14 September 2019Source: Stem Cell ResearchAuthor(s): Yue Li, Haiyan Zhang, Beibei Yan, Yanyan Ma, Xiaomeng Yang, Jingyun Guan, Yuqiang Lv, Min Gao, Jian Ma, Zhongtao Gai, Yi LiuAbstractMaple 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.
Source: Stem Cell Research - Category: Stem Cells Source Type: research