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Cellosaurus UPSFRi012-A (CVCL_QX69)

[Text version]
Cell line name UPSFRi012-A
Synonyms PB52
Accession CVCL_QX69
Resource Identification Initiative To cite this cell line use: UPSFRi012-A (RRID:CVCL_QX69)
Comments From: Universite Paris-Sud 11; Paris; France.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 6257; KCNJ11; Simple; p.Glu227Lys (c.679G>A); ClinVar=VCV000158682; Zygosity=Heterozygous (PubMed=28925365).
Disease Maturity-onset diabetes of the young (NCIt: C114769)
MODY (ORDO: Orphanet_552)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 51Y
Category Induced pluripotent stem cell
Publications

PubMed=28925365; DOI=10.1016/j.scr.2017.07.023
Griscelli F., Feraud O., Ernault T., Oudrihri N., Turhan A.G., Bonnefond A., Froguel P., Bennaceur-Griscelli A.
Generation of an induced pluripotent stem cell (iPSC) line from a patient with maturity-onset diabetes of the young type 13 (MODY13) with a the potassium inwardly-rectifying channel, subfamily J, member 11 (KCNJ11) mutation.
Stem Cell Res. 23:178-181(2017)

Cross-references
Cell line databases/resources hPSCreg; UPSFRi012-A
SKIP; SKIP003206
Encyclopedic resources Wikidata; Q54991787
Entry history
Entry creation15-Nov-2017
Last entry update29-Jun-2023
Version number10