An integration-free iPSC line (SDQLCHi013-A) derived from a patient with maple syrup urine disease carrying compound heterozygote mutations in BCKDHA gene
Summary
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. Copyright © 2019. Published by Elsevier B.V.
| Authors | Zhang H, Ma Y, Li X, Yang X, Li Y, Guan J, Dong R, Gai Z, Liu Y |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2019 Dec;41:101585 |
| PubMed | 31775088 |
| DOI | 10.1016/j.scr.2019.101585 |