Generation of a human induced pluripotent stem cell line (QBRIi009-A) from a patient with a heterozygous deletion of FOXA2


FOXA2 is a transcription factor, playing an important role during development. We established an induced pluripotent stem cell (iPSC) line, QBRIi009-A, using non-integrating Sendai virus from a 4-year-old boy, displaying a complex clinical phenotype. Molecular karyotyping and cytogenetics confirmed a de novo proximal 20p11.2 deletion with a reciprocal translocation between the short arm of chromosome 6 and 20. The deleted region (~969 kb) contains only one gene, FOXA2. The generated hiPSC line was fully characterized for its pluripotency and its genetic identity. This iPSC line provides a useful model to study FOXA2 role during human development and in disease pathogenesis. Copyright © 2020. Published by Elsevier B.V.

Authors Elsayed AK, Aghadi M, Ali G, Al-Khawaga S, Hussain K, Abdelalim EM
Journal Stem cell research
Publication Date 2020 Jan;42:101705
PubMed 31991389
DOI 10.1016/j.scr.2020.101705

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