An induced pluripotent stem cell line (SDQLCHi033-A) derived from a patient with maple syrup urine disease type Ib carrying a homozygous mutation in BCKDHB gene
Summary
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. Copyright © 2020. Published by Elsevier B.V.
| Authors | Wang B, Liu C, Zhang H, Gai Z, Liu Y |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2020 Dec 28;50:102146 |
| PubMed | 33388706 |
| DOI | 10.1016/j.scr.2020.102146 |