ID   PDX1 P33T iPSC1
AC   CVCL_A4MW
DR   SKIP; SKIP003041
DR   Wikidata; Q105510553
RX   PubMed=27879211;
CC   From: Helmholtz Zentrum Munchen; Neuherberg; Germany.
CC   Sequence variation: Mutation; HGNC; HGNC:6107; PDX1; Simple; p.Pro33Thr (c.97C>T); ClinVar=VCV000036414; Zygosity=Heterozygous (PubMed=27879211).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C129746; PDX1-associated monogenic diabetes
DI   ORDO; Orphanet_552; MODY
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Adult
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 19-12-24; Version: 6
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RX   PubMed=27879211; DOI=10.1016/j.scr.2016.08.004;
RA   Wang X.-M., Chen S., Burtscher I., Sterr M., Hieronimus A., Machicao F.,
RA   Staiger H., Haring H.-U., Lederer G., Meitinger T., Lickert H.;
RT   "Generation of a human induced pluripotent stem cell (iPSC) line from
RT   a patient carrying a P33T mutation in the PDX1 gene.";
RL   Stem Cell Res. 17:273-276(2016).
//