Format

Send to

Choose Destination
Stem Cell Res. 2019 Oct;40:101579. doi: 10.1016/j.scr.2019.101579. Epub 2019 Sep 14.

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.

Author information

1
Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China.
2
Neonatal department, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China.
3
Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China. Electronic address: y_liu99@sina.com.

Abstract

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.

PMID:
31610500
DOI:
10.1016/j.scr.2019.101579
Free full text

Supplemental Content

Full text links

Icon for Elsevier Science
Loading ...
Support Center