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Cellosaurus QBRIi010-A (CVCL_A4NV)

[Text version]
Cell line name QBRIi010-A
Synonyms GCK-MODY2 iPSCs
Accession CVCL_A4NV
Resource Identification Initiative To cite this cell line use: QBRIi010-A (RRID:CVCL_A4NV)
Comments From: Qatar Biomedical Research Institute; Doha; Quatar.
Population: Egyptian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 4195; GCK; Simple; p.Leu146Pro (c.437T>C); ClinVar=VCV002428681; Zygosity=Heterozygous (PubMed=32971462).
Disease Glucokinase-associated diabetes mellitus (NCIt: C129741)
MODY (ORDO: Orphanet_552)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_A4NX ! QBRIi010-B
CVCL_A4NY ! QBRIi010-C
Sex of cell Male
Age at sampling 54Y
Category Induced pluripotent stem cell
Publications

PubMed=32971462; DOI=10.1016/j.scr.2020.101991
Abu Aqel Y.W., Ali G., Elsayed A.K., Al-Khawaga S., Hussain K., Abdelalim E.M.
Generation of two human iPSC lines from patients with maturity-onset diabetes of the young type 2 (MODY2) and permanent neonatal diabetes due to mutations in the GCK gene.
Stem Cell Res. 48:101991-101991(2020)

Cross-references
Cell line databases/resources hPSCreg; QBRIi010-A
SKIP; SKIP005885
Encyclopedic resources Wikidata; Q105510623
Entry history
Entry creation12-Jan-2021
Last entry update29-Jun-2023
Version number4