ID   UPSFRi013-A
AC   CVCL_VF25
SY   PB51; HNF1A(S142F)mutated iPSC
DR   hPSCreg; UPSFRi013-A
DR   SKIP; SKIP003204
DR   Wikidata; Q54991790
RX   PubMed=29597128;
CC   From: Universite Paris-Sud 11; Paris; France.
CC   Sequence variation: Mutation; HGNC; 11621; HNF1A; Simple; p.Ser142Phe (c.425C>T); ClinVar=VCV001327620; Zygosity=Heterozygous (PubMed=29597128).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C129742; Hepatocyte nuclear factor 1-alpha-associated monogenic diabetes
DI   ORDO; Orphanet_552; MODY
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   49Y
CA   Induced pluripotent stem cell
DT   Created: 14-05-18; Last updated: 29-06-23; Version: 9
//
RX   PubMed=29597128; DOI=10.1016/j.scr.2018.02.017;
RA   Griscelli F., Ezanno H., Soubeyrand M., Feraud O., Oudrhiri N.,
RA   Bonnefond A., Turhan A.G., Froguel P., Bennaceur-Griscelli A.;
RT   "Generation of an induced pluripotent stem cell (iPSC) line from a
RT   patient with maturity-onset diabetes of the young type 3 (MODY3)
RT   carrying a hepatocyte nuclear factor 1-alpha (HNF1A) mutation.";
RL   Stem Cell Res. 29:56-59(2018).
//