Cellosaurus cell line UPSFRi013-A (CVCL

Cross-references
Cell line name	UPSFRi013-A
Synonyms	PB51; HNF1A(S142F)mutated iPSC
Accession	CVCL_VF25
Resource Identification Initiative	To cite this cell line use: UPSFRi013-A (RRID:CVCL_VF25)
Comments	From: Universite Paris-Sud 11; Paris; France. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:11621; HNF1A; Simple; p.Ser142Phe (c.425C>T); ClinVar=VCV001327620; Zygosity=Heterozygous (PubMed=29597128).
Disease	Hepatocyte nuclear factor 1-alpha-associated monogenic diabetes (NCIt: C129742) MODY (ORDO: Orphanet_552)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	49Y
Category	Induced pluripotent stem cell
Publications	PubMed=29597128; DOI=10.1016/j.scr.2018.02.017 Frank Griscelli, Helene Ezanno, Mathis Soubeyrand, Olivier Feraud, Noufissa Oudrhiri, Amelie Bonnefond, Ali G. Turhan, Philippe Froguel, Annelise Bennaceur-Griscelli; Generation of an induced pluripotent stem cell (iPSC) line from a patient with maturity-onset diabetes of the young type 3 (MODY3) carrying a hepatocyte nuclear factor 1-alpha (HNF1A) mutation. Stem Cell Res. 29:56-59(2018)
Cell line databases/resources	hPSCreg; UPSFRi013-A SKIP; SKIP003204
Encyclopedic resources	Wikidata; Q54991790
Entry history
Entry creation	14-May-2018
Last entry update	19-Dec-2024
Version number	10