Generation and characterization of a human iPSC line (UAMi005-A) from a patient with nonketotic hyperglycinemia due to mutations in the GLDC gene.

Authors :: Arribas-Carreira L
Bravo-Alonso I
López-Márquez A
Alonso-Barroso E
Briso-Montiano Á
Arroyo I
Ugarte M
Pérez B
Pérez-Cerdá C
Rodríguez-Pombo P
Richard E
Source :: Stem cell research [Stem Cell Res] 2019 Aug; Vol. 39, pp. 101503. Date of Electronic Publication: 2019 Jul 16.
Publication Year :: 2019
Abstract: A human induced pluripotent stem cell (iPSC) line was generated from fibroblasts of a patient with nonketotic hyperglycinemia bearing the biallelic changes c.1742C > G (p.Pro581Arg) and c.2368C > T (p.Arg790Trp) in the GLDC gene. Reprogramming factors OCT3/4, SOX2, KLF4 and c-MYC were delivered using a non-integrative method based on the Sendai virus. Once established, iPSCs have shown full pluripotency, differentiation capacity and genetic stability. This cellular model provides a good resource for disease modeling and drug discovery.<br /> (Copyright © 2019. Published by Elsevier B.V.)

Subjects :: Cell Differentiation genetics
Cell Differentiation physiology
Humans
Infant, Newborn
Kruppel-Like Factor 4
Kruppel-Like Transcription Factors genetics
Kruppel-Like Transcription Factors metabolism
Male
Octamer Transcription Factor-3 genetics
Octamer Transcription Factor-3 metabolism
Proto-Oncogene Proteins c-myc genetics
Proto-Oncogene Proteins c-myc metabolism
SOXB1 Transcription Factors genetics
SOXB1 Transcription Factors metabolism
Hyperglycinemia, Nonketotic genetics
Induced Pluripotent Stem Cells cytology
Induced Pluripotent Stem Cells metabolism
Mutation genetics

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