Stem Cell Research (Dec 2024)
Derivation of induced pluripotent stem cell from a Baraitser-Winter Cerebrofrontofacial syndrome with ACTB mutation
- Xiaolin Hou,
- Zhaoxi Wang,
- Ruiyun Guo,
- Zijing Zhou,
- Jing Zhang,
- Yan Li,
- Herman Yao Akogo,
- Jiajia Ma,
- Wenqi Chen,
- Donglan Sun,
- Jun Ma,
- Qing Guo,
- Huixian Cui
Affiliations
- Xiaolin Hou
- Prenatal Diagnosis Center, Shijiazhuang Obstetrics and Gynecology Hospital, Shijiazhuang, Hebei Province 050000, China; Hebei Key Laboratory of Maternal and Fetal Medicine, Shijiazhuang, Hebei Province 050000, China; Shijiazhuang Key Laboratory of Reproductive Health, Shijiazhuang, Hebei Province 050000, China
- Zhaoxi Wang
- Prenatal Diagnosis Center, Shijiazhuang Obstetrics and Gynecology Hospital, Shijiazhuang, Hebei Province 050000, China; Hebei Key Laboratory of Maternal and Fetal Medicine, Shijiazhuang, Hebei Province 050000, China; Shijiazhuang Key Laboratory of Reproductive Health, Shijiazhuang, Hebei Province 050000, China
- Ruiyun Guo
- Hebei Medical University-Galway University Stem Cell Research Center, Hebei Medical University, Shijiazhuang, Hebei Province 050017, China; Hebei Research Center for Stem Cell Medical Translational Engineering, Hebei Province 050017, China; Hebei Technology Innovation Center for Stem Cell and Regenerative Medicine, Hebei Province, China; Hebei International Joint Research Center for Stem Cell and Regenerative Medicine, Hebei Province, China
- Zijing Zhou
- Hebei Medical University-Galway University Stem Cell Research Center, Hebei Medical University, Shijiazhuang, Hebei Province 050017, China; Hebei Research Center for Stem Cell Medical Translational Engineering, Hebei Province 050017, China; Hebei Technology Innovation Center for Stem Cell and Regenerative Medicine, Hebei Province, China; Hebei International Joint Research Center for Stem Cell and Regenerative Medicine, Hebei Province, China
- Jing Zhang
- Prenatal Diagnosis Center, Shijiazhuang Obstetrics and Gynecology Hospital, Shijiazhuang, Hebei Province 050000, China; Hebei Key Laboratory of Maternal and Fetal Medicine, Shijiazhuang, Hebei Province 050000, China; Shijiazhuang Key Laboratory of Reproductive Health, Shijiazhuang, Hebei Province 050000, China
- Yan Li
- Hebei Medical University-Galway University Stem Cell Research Center, Hebei Medical University, Shijiazhuang, Hebei Province 050017, China; School of Nursing, Hebei Medical University, Shijiazhuang, Hebei Province 050017, China
- Herman Yao Akogo
- Hebei Medical University-Galway University Stem Cell Research Center, Hebei Medical University, Shijiazhuang, Hebei Province 050017, China; Hebei Research Center for Stem Cell Medical Translational Engineering, Hebei Province 050017, China; Hebei Technology Innovation Center for Stem Cell and Regenerative Medicine, Hebei Province, China; Hebei International Joint Research Center for Stem Cell and Regenerative Medicine, Hebei Province, China; Department of Biomedical Sciences, College of Health and Allied Sciences, University of Cape Coast, PMB UCC, Cape Coast, Ghana
- Jiajia Ma
- Hebei Medical University-Galway University Stem Cell Research Center, Hebei Medical University, Shijiazhuang, Hebei Province 050017, China; Hebei Research Center for Stem Cell Medical Translational Engineering, Hebei Province 050017, China; Hebei Technology Innovation Center for Stem Cell and Regenerative Medicine, Hebei Province, China; Hebei International Joint Research Center for Stem Cell and Regenerative Medicine, Hebei Province, China
- Wenqi Chen
- Prenatal Diagnosis Center, Shijiazhuang Obstetrics and Gynecology Hospital, Shijiazhuang, Hebei Province 050000, China; Hebei Key Laboratory of Maternal and Fetal Medicine, Shijiazhuang, Hebei Province 050000, China; Shijiazhuang Key Laboratory of Reproductive Health, Shijiazhuang, Hebei Province 050000, China
- Donglan Sun
- Prenatal Diagnosis Center, Shijiazhuang Obstetrics and Gynecology Hospital, Shijiazhuang, Hebei Province 050000, China; Hebei Key Laboratory of Maternal and Fetal Medicine, Shijiazhuang, Hebei Province 050000, China; Shijiazhuang Key Laboratory of Reproductive Health, Shijiazhuang, Hebei Province 050000, China
- Jun Ma
- Hebei Medical University-Galway University Stem Cell Research Center, Hebei Medical University, Shijiazhuang, Hebei Province 050017, China; Hebei Research Center for Stem Cell Medical Translational Engineering, Hebei Province 050017, China; Hebei Technology Innovation Center for Stem Cell and Regenerative Medicine, Hebei Province, China; Hebei International Joint Research Center for Stem Cell and Regenerative Medicine, Hebei Province, China; Human Anatomy Department, Hebei Medical University, Shijiazhuang, Hebei Province 050017, China; Corresponding author at: Hebei Research Center for Stem Cell Medical Translational Engineering, Hebei Medical University, Hebei Province 050017, China.
- Qing Guo
- Prenatal Diagnosis Center, Shijiazhuang Obstetrics and Gynecology Hospital, Shijiazhuang, Hebei Province 050000, China; Hebei Key Laboratory of Maternal and Fetal Medicine, Shijiazhuang, Hebei Province 050000, China; Shijiazhuang Key Laboratory of Reproductive Health, Shijiazhuang, Hebei Province 050000, China; Corresponding author at: Shijiazhuang Obstetrics and Gynecology Hospital, Shijiazhuang, Hebei Province 050000, China.
- Huixian Cui
- Hebei Medical University-Galway University Stem Cell Research Center, Hebei Medical University, Shijiazhuang, Hebei Province 050017, China; Hebei Research Center for Stem Cell Medical Translational Engineering, Hebei Province 050017, China; Hebei Technology Innovation Center for Stem Cell and Regenerative Medicine, Hebei Province, China; Hebei International Joint Research Center for Stem Cell and Regenerative Medicine, Hebei Province, China; Human Anatomy Department, Hebei Medical University, Shijiazhuang, Hebei Province 050017, China
- Journal volume & issue
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Vol. 81
p. 103577
Abstract
Baraitser-Winter Cerebrofrontofacial syndrome (BWCFF, OMIM: 243310) is a rare congenital developmental disorder marked by distinct facial dysmorphisms, coloboma, diminutive stature, and cognitive impairment, as initially described by Baraitser and Winter in 1988. Here, we derived human induced pluripotent stem cells (hiPSCs) from a 4-year-old male patient diagnosed with Baraitser-Winter Cerebrofrontofacial syndrome and harbouring a mutation in the ACTB gene. The newly established hiPSC line exhibited normal karyotypes and demonstrated the capacity to differentiate into all three germ layers. Additionally, these hiPSCs maintained their original genotype and expressed markers of pluripotency. Patient-derived hiPSCs would serve as a valuable tool for in vitro modelling of Baraitser-Winter Cerebrofrontofacial syndrome and reveal the potential pathogenesis induced by ACTB gene mutations.
