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Generation of a human induced pluripotent stem cell line (QBRIi009-A) from a patient with a heterozygous deletion of FOXA2.
Elsayed, Ahmed K; Aghadi, Maryam; Ali, Gowher; Al-Khawaga, Sara; Hussain, Khalid; Abdelalim, Essam M.
Affiliation
  • Elsayed AK; Diabetes Research Center, Qatar Biomedical Research Institute (QBRI), Hamad Bin Khalifa University (HBKU), Qatar Foundation (QF), PO Box 34110, Doha, Qatar.
  • Aghadi M; Diabetes Research Center, Qatar Biomedical Research Institute (QBRI), Hamad Bin Khalifa University (HBKU), Qatar Foundation (QF), PO Box 34110, Doha, Qatar; College of Health and Life Sciences, Hamad Bin Khalifa University (HBKU), Qatar Foundation, Education City, Doha, Qatar.
  • Ali G; Diabetes Research Center, Qatar Biomedical Research Institute (QBRI), Hamad Bin Khalifa University (HBKU), Qatar Foundation (QF), PO Box 34110, Doha, Qatar.
  • Al-Khawaga S; College of Health and Life Sciences, Hamad Bin Khalifa University (HBKU), Qatar Foundation, Education City, Doha, Qatar; Division of Endocrinology, Department of Pediatric Medicine, Sidra Medicine, Qatar.
  • Hussain K; Division of Endocrinology, Department of Pediatric Medicine, Sidra Medicine, Qatar.
  • Abdelalim EM; Diabetes Research Center, Qatar Biomedical Research Institute (QBRI), Hamad Bin Khalifa University (HBKU), Qatar Foundation (QF), PO Box 34110, Doha, Qatar; College of Health and Life Sciences, Hamad Bin Khalifa University (HBKU), Qatar Foundation, Education City, Doha, Qatar. Electronic address: em
Stem Cell Res ; 42: 101705, 2020 01.
Article in En | MEDLINE | ID: mdl-31991389
ABSTRACT
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.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Hepatocyte Nuclear Factor 3-beta / Induced Pluripotent Stem Cells Type of study: Prognostic_studies Limits: Animals / Child, preschool / Humans / Male Language: En Journal: Stem Cell Res Year: 2020 Document type: Article Affiliation country:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Hepatocyte Nuclear Factor 3-beta / Induced Pluripotent Stem Cells Type of study: Prognostic_studies Limits: Animals / Child, preschool / Humans / Male Language: En Journal: Stem Cell Res Year: 2020 Document type: Article Affiliation country: