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Stem Cell Res. 2019 Oct 12;41:101585. doi: 10.1016/j.scr.2019.101585. [Epub ahead of print]

An integration-free iPSC line (SDQLCHi013-A) derived from a patient with maple syrup urine disease carrying compound heterozygote mutations in BCKDHA 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; Neonatal Department, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China. Electronic address: gaizhongtao@sina.com.

Abstract

The human induced pluripotent stem cell (iPSC) line SDQLCHi013-A was generated from peripheral blood mononuclear cells of a 7-day-old infant, who was diagnosed with maple syrup urine disease and carried compound heterozygote mutations (c.1280_1282 delTGG and c.632C>T) in BCKDHA gene. Non-integrating episomal vectors coding OCT4, SOX2, KLF4, BCL-XL and MYC were used for reprogramming. The established iPSC line contained the same mutations found in the patient, possessed a normal karyotype, could differentiate into cells of three germ layers in vitro and expressed pluripotency markers.

PMID:
31775088
DOI:
10.1016/j.scr.2019.101585
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