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

Ahmed K. Elsayed; Maryam Aghadi; Gowher Ali; Sara Al-Khawaga; Khalid Hussain; Essam M. Abdelalim

doi:10.1016/j.scr.2020.101705

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

Ahmed K. Elsayed
, Maryam Aghadi
, Gowher Ali
, Sara Al-Khawaga
, Khalid Hussain
, Essam M. Abdelalim^*

^*Corresponding author for this work

Sidra Medical and Research Center

Research output: Contribution to journal › Article › peer-review

6 Citations (Scopus)

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.

Original language	English
Article number	101705
Journal	Stem Cell Research
Volume	42
DOIs	https://doi.org/10.1016/j.scr.2020.101705
Publication status	Published - Jan 2020

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

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 (\textasciitilde{}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.",

author = "Elsayed, \{Ahmed K.\} and Maryam Aghadi and Gowher Ali and Sara Al-Khawaga and Khalid Hussain and Abdelalim, \{Essam M.\}",

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language = "English",

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AU - Elsayed, Ahmed K.

AU - Aghadi, Maryam

AU - Ali, Gowher

AU - Al-Khawaga, Sara

AU - Hussain, Khalid

AU - Abdelalim, Essam M.

PY - 2020/1

Y1 - 2020/1

N2 - 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.

AB - 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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DO - 10.1016/j.scr.2020.101705

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AN - SCOPUS:85078170349

SN - 1873-5061

VL - 42

JO - Stem Cell Research

JF - Stem Cell Research

M1 - 101705

ER -

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

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