Cellosaurus cell line PDX1 C18R iPSC1 (CVCL

Cross-references
Cell line name	PDX1 C18R iPSC1
Accession	CVCL_A4MX
Resource Identification Initiative	To cite this cell line use: PDX1 C18R iPSC1 (RRID:CVCL_A4MX)
Comments	From: Helmholtz Zentrum Munchen; Neuherberg; Germany. Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:6107; PDX1; Simple; p.Cys18Arg (c.52T>C); ClinVar=VCV000008862; Zygosity=Heterozygous (PubMed=27879214).
Disease	PDX1-associated monogenic diabetes (NCIt: C129746) MODY (ORDO: Orphanet_552)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	Adult
Category	Induced pluripotent stem cell
Publications	PubMed=27879214; DOI=10.1016/j.scr.2016.08.005 Wang X.-M., Chen S., Burtscher I., Sterr M., Hieronimus A., Machicao F., Staiger H., Haring H.-U., Lederer G., Meitinger T., Lickert H. Generation of a human induced pluripotent stem cell (iPSC) line from a patient with family history of diabetes carrying a C18R mutation in the PDX1 gene. Stem Cell Res. 17:292-295(2016)
Cell line databases/resources	SKIP; SKIP003040
Encyclopedic resources	Wikidata; Q105510551
Entry history
Entry creation	12-Jan-2021
Last entry update	19-Dec-2024
Version number	6