An induced pluripotent stem cell line derived from a patient with neonatal diabetes and Fanconi-Bickel syndrome caused by a homozygous mutation in the SLC2A2 gene
<p dir="ltr">Recessive mutations in the glucose transporter gene <i>SLC2A2 (GLUT2)</i> lead to permanent neonatal diabetes (PNDM) and Fanconi Bickel Syndrome (FBS). Here, we generated an induced pluripotent stem cell (iPSC) line, QBRIi012-A, from a 24-month-old boy with F...
محفوظ في:
| المؤلف الرئيسي: | |
|---|---|
| مؤلفون آخرون: | , , |
| منشور في: |
2021
|
| الموضوعات: | |
| الوسوم: |
إضافة وسم
لا توجد وسوم, كن أول من يضع وسما على هذه التسجيلة!
|
| الملخص: | <p dir="ltr">Recessive mutations in the glucose transporter gene <i>SLC2A2 (GLUT2)</i> lead to permanent neonatal diabetes (PNDM) and Fanconi Bickel Syndrome (FBS). Here, we generated an induced pluripotent stem cell (iPSC) line, QBRIi012-A, from a 24-month-old boy with FBS and PNDM due to homozygous nonsense mutation in the <i>SLC2A2</i> gene (c.901C > T). The QBRIi012-A was fully characterized using different approaches. The cell line showed normal karyotype and was able to differentiate into the three germ layers <i>in vitro</i>. This iPSC line provides a novel human cell model to understand the pathophysiology of FBS and diabetes associated with <i>SLC2A2</i> defects.</p><h2>Other Information</h2><p dir="ltr">Published in: Stem Cell Research<br>License: <a href="http://creativecommons.org/licenses/by/4.0/" target="_blank">http://creativecommons.org/licenses/by/4.0/</a><br>See article on publisher's website: <a href="https://dx.doi.org/10.1016/j.scr.2021.102433" target="_blank">https://dx.doi.org/10.1016/j.scr.2021.102433</a></p><p dir="ltr">Additional institutions affiliated with: Diabetes Research Center - QBRI</p> |
|---|