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!
|
| _version_ | 1864513546409213952 |
|---|---|
| author | Ahmed K. Elsayed (13275302) |
| author2 | Sara Al-Khawaga (4792761) Khalid Hussain (110443) Essam M. Abdelalim (5768072) |
| author2_role | author author author |
| author_facet | Ahmed K. Elsayed (13275302) Sara Al-Khawaga (4792761) Khalid Hussain (110443) Essam M. Abdelalim (5768072) |
| author_role | author |
| dc.creator.none.fl_str_mv | Ahmed K. Elsayed (13275302) Sara Al-Khawaga (4792761) Khalid Hussain (110443) Essam M. Abdelalim (5768072) |
| dc.date.none.fl_str_mv | 2021-07-01T00:00:00Z |
| dc.identifier.none.fl_str_mv | 10.1016/j.scr.2021.102433 |
| dc.relation.none.fl_str_mv | https://figshare.com/articles/journal_contribution/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/24433210 |
| dc.rights.none.fl_str_mv | CC BY 4.0 info:eu-repo/semantics/openAccess |
| dc.subject.none.fl_str_mv | Biological sciences Biochemistry and cell biology Genetics Biomedical and clinical sciences Clinical sciences Medical biochemistry and metabolomics stem cell neonatal diabetes Fanconi-Bickel SLC2A2 gene |
| dc.title.none.fl_str_mv | 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 |
| dc.type.none.fl_str_mv | Text Journal contribution info:eu-repo/semantics/publishedVersion text contribution to journal |
| description | <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> |
| eu_rights_str_mv | openAccess |
| id | Manara2_418c93dcd6173fe3e4887edce0361592 |
| identifier_str_mv | 10.1016/j.scr.2021.102433 |
| network_acronym_str | Manara2 |
| network_name_str | Manara2 |
| oai_identifier_str | oai:figshare.com:article/24433210 |
| publishDate | 2021 |
| repository.mail.fl_str_mv | |
| repository.name.fl_str_mv | |
| repository_id_str | |
| rights_invalid_str_mv | CC BY 4.0 |
| spelling | 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 geneAhmed K. Elsayed (13275302)Sara Al-Khawaga (4792761)Khalid Hussain (110443)Essam M. Abdelalim (5768072)Biological sciencesBiochemistry and cell biologyGeneticsBiomedical and clinical sciencesClinical sciencesMedical biochemistry and metabolomicsstem cellneonatal diabetesFanconi-BickelSLC2A2 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 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>2021-07-01T00:00:00ZTextJournal contributioninfo:eu-repo/semantics/publishedVersiontextcontribution to journal10.1016/j.scr.2021.102433https://figshare.com/articles/journal_contribution/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/24433210CC BY 4.0info:eu-repo/semantics/openAccessoai:figshare.com:article/244332102021-07-01T00:00:00Z |
| spellingShingle | 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 Ahmed K. Elsayed (13275302) Biological sciences Biochemistry and cell biology Genetics Biomedical and clinical sciences Clinical sciences Medical biochemistry and metabolomics stem cell neonatal diabetes Fanconi-Bickel SLC2A2 gene |
| status_str | publishedVersion |
| title | 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 |
| title_full | 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 |
| title_fullStr | 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 |
| title_full_unstemmed | 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 |
| title_short | 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 |
| title_sort | 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 |
| topic | Biological sciences Biochemistry and cell biology Genetics Biomedical and clinical sciences Clinical sciences Medical biochemistry and metabolomics stem cell neonatal diabetes Fanconi-Bickel SLC2A2 gene |