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Generation of fibroblast-derived induced pluripotent stem cell (iPSC) lines from two paediatric patients with phenylketonuria

Authors :
Desi Veleva
Merve Ay
Dmitry A. Ovchinnikov
Andrew B.J. Prowse
Minal J. Menezes
Michael Nafisinia
Source :
Stem Cell Research, Vol 77, Iss , Pp 103405- (2024)
Publication Year :
2024
Publisher :
Elsevier, 2024.

Abstract

Phenylketonuria is a rare autosomal recessive metabolic disorder mainly due to a significant reduction in the enzyme phenylalanine hydroxylase, resulting in elevation of phenylalanine in the blood. Here, we have established two fibroblast-derived induced pluripotent stem cell lines using Sendai virus-based reprogramming. The established induced pluripotent stem cell lines exhibited a normal karyotype and expressed markers of pluripotency assessed through quantitative PCR, flow cytometry and immunocytochemistry. These cell lines also demonstrated the ability to differentiate into the three primary germ layers of the human body, including ectoderm, endoderm, and mesoderm.

Details

Language :
English
ISSN :
18735061
Volume :
77
Issue :
103405-
Database :
Directory of Open Access Journals
Journal :
Stem Cell Research
Publication Type :
Academic Journal
Accession number :
edsdoj.4f8dc0398c4699a2df95af4f46e35a
Document Type :
article
Full Text :
https://doi.org/10.1016/j.scr.2024.103405