Generation of an induced pluripotent stem cell line (SHCDNi007-A) from a patient with pyruvate carboxylase deficiency carrying compound heterozygous (c.182 T > C/ c.2581G > A) variants in PC
Summary
Pyruvate carboxylase (PC) deficiency (PCD), due to biallelic PC variants, is a rare inherited metabolic disease, which is characterized by seizures, global developmental delay, as well as lactic acidosis, and elevated plasma pyruvate and alanine levels in affected individuals. In the present study, a new induced pluripotent stem cell line (SHCDNi007-A) was generated from the peripheral blood mononuclear cells of a 2-month-old male infant with biallelic PC mutations c.(182 T > C;2581G > A), i.e. p.(Ile61Thr;Val861Met). This cell line is expected to facilitate the in vitro modeling of the disease pathophysiology and the development of future therapeutics for PCD. Copyright © 2022 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Sun J, Lu P, Shen Y, Ma L |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2023 Feb;66:102997 |
| PubMed | 36508859 |
| DOI | 10.1016/j.scr.2022.102997 |