Characterization of a human induced pluripotent stem cell line (FDCHi015-A) derived from PBMCs of a patient harbouring ALDOB mutation
Summary
Hereditary fructose intolerance (HFI) is an autosomal recessive metabolic disease associated with a mutation in the aldolase B gene on chromosome 9q31. In this study, we generated a human-induced pluripotent stem cell (hiPSC) line, FDCHi015-A, from peripheral blood mononuclear cells (PBMCs) of a patient carrying the compound heterozygous mutations c.360_364delCAAA and c.1013C > T in exons 4 and 9 of the ALDOB gene, respectively. The iPSCs with the confirmed patient-specific mutation demonstrate pluripotency markers expression, a normal karyotype, and the ability to differentiate into derivatives of three germ layers. Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Yin T, Liao Y, Li X, Wang H, Wu B, Dong X |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Aug;78:103451 |
| PubMed | 38820866 |
| DOI | 10.1016/j.scr.2024.103451 |