Cellosaurus cell line UPSFRi012-A (CVCL

Cross-references
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; 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., Oudrhiri 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)
Cell line databases/resources	hPSCreg; UPSFRi012-A SKIP; SKIP003206
Encyclopedic resources	Wikidata; Q54991787
Entry history
Entry creation	15-Nov-2017
Last entry update	19-Dec-2024
Version number	11