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Cellosaurus QBRIi010-C (CVCL_A4NY)

[Text version]
Cell line name QBRIi010-C
Accession CVCL_A4NY
Resource Identification Initiative To cite this cell line use: QBRIi010-C (RRID:CVCL_A4NY)
Comments From: Qatar Biomedical Research Institute; Doha; Quatar.
Population: Egyptian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:4195; GCK; Simple; p.Leu146Pro (c.437T>C); ClinVar=VCV002428681; Zygosity=Heterozygous (from autologous cell line QBRIi010-A).
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_A4NV ! QBRIi010-A
CVCL_A4NX ! QBRIi010-B
Sex of cell Male
Age at sampling 54Y
Category Induced pluripotent stem cell
Cross-references
Cell line databases/resources SKIP; SKIP005887
Encyclopedic resources Wikidata; Q105510627
Entry history
Entry creation12-Jan-2021
Last entry update19-Dec-2024
Version number6