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

Bin Wang; Chen Liu; Haiyan Zhang; Zhongtao Gai; Yi Liu

Stem Cell Research (Jan 2021)

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

Bin Wang,
Chen Liu,
Haiyan Zhang,
Zhongtao Gai,
Yi Liu

Affiliations

Bin Wang: Pediatric Research Institute, Qilu Children’s Hospital of Shandong University, Jinan, Shandong 250022, China
Chen Liu: Neonatal Department, Qilu Children’s Hospital of Shandong University, Jinan, Shandong 250022, China
Haiyan Zhang: Pediatric Research Institute, Qilu Children’s Hospital of Shandong University, Jinan, Shandong 250022, China
Zhongtao Gai: Pediatric Research Institute, Qilu Children’s Hospital of Shandong University, Jinan, Shandong 250022, China; Neonatal Department, Qilu Children’s Hospital of Shandong University, Jinan, Shandong 250022, China; Corresponding authors at: Pediatric Research Institute, Qilu Children’s Hospital of Shandong University, Jinan, Shandong 250022, China (Z. Gai).
Yi Liu: Pediatric Research Institute, Qilu Children’s Hospital of Shandong University, Jinan, Shandong 250022, China; Corresponding authors at: Pediatric Research Institute, Qilu Children’s Hospital of Shandong University, Jinan, Shandong 250022, China (Z. Gai).

Journal volume & issue: Vol. 50
p. 102146

Abstract

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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.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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