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

Publication date: Available online 21 January 2020Source: Stem Cell ResearchAuthor(s): Ahmed K. Elsayed, Maryam Aghadi, Gowher Ali, Sara Al-Khawaga, Khalid Hussain, Essam M. AbdelalimAbstractFOXA2 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.
Source: Stem Cell Research - Category: Stem Cells Source Type: research