Maple syrup urine disease (MSUD) type Ib is a subclass of MSUD (248600) which is an inborn error of metabolism caused by defects in the branched-chain α-ketoacid dehydrogenase complex. An induced pluripotent stem cell (iPSC) line was generated from an 11-day-old girl diagnosed with maple syrup urine disease type Ib and carrying a novel homozygous mutation of c.1097C>A (p.P366Q) in BCKDHB gene. This cell line demonstrates a normal karyotype and maintains a pluripotent state, displaying the capability to differentiate into the three germ layer lineages and the absence of exogenous pluripotency vector expression.

中文翻译：

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诱导多能干细胞系（SDQLCHi033-A）来自患有糖浆尿病Ib型且携带BCKDHB基因纯合突变的患者

Ib型枫糖浆尿病（MSUD）是MSUD（248600）的一个子类，它是由支链α-酮酸脱氢酶复合物缺陷引起的先天性代谢错误。诱导的多能干细胞（iPSC）系由一个11天大的女孩产生，该女孩被诊断患有糖浆尿病Ib型，并在BCKDHB基因中携带c.1097C> A（p.P366Q）的新纯合突变。该细胞系表现出正常的核型并保持多能状态，显示出分化为三个胚层谱系的能力，并且没有外源多能性载体表达。