An integration-free iPSC line (SDQLCHi013-A) derived from a patient with maple syrup urine disease carrying compound heterozygote mutations in BCKDHA gene
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|