Home  |  Contact

Cellosaurus QBRIi012-A (CVCL_A8MY)

[Text version]

Cell line name QBRIi012-A
Synonyms GLUT2-exo-mut iPSCs
Accession CVCL_A8MY
Resource Identification Initiative To cite this cell line use: QBRIi012-A (RRID:CVCL_A8MY)
Comments From: Qatar Biomedical Research Institute; Doha; Quatar.
Population: Palestinian.
Derived from sampling site: Peripheral blood.
Sequence variations
Disease Glycogen storage disease type XI (NCIt: C168998)
Permanent neonatal diabetes mellitus (NCIt: C114902)
Fanconi-Bickel syndrome (ORDO: Orphanet_2088)
Permanent neonatal diabetes mellitus (ORDO: Orphanet_99885)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 2Y
Category Induced pluripotent stem cell
Publications

PubMed=34171785; DOI=10.1016/j.scr.2021.102433
Elsayed A.K., Al-Khawaga S., Hussain K., Abdelalim E.M.
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.
Stem Cell Res. 54:102433-102433(2021)

Cross-references
Cell line databases/resources hPSCreg; QBRIi012-A
Encyclopedic resources Wikidata; Q108821194
Entry history
Entry creation23-Sep-2021
Last entry update16-Dec-2021
Version number2