Cellosaurus cell line HEL72D (CVCL

Cross-references
Cell line name	HEL72D
Accession	CVCL_UL35
Resource Identification Initiative	To cite this cell line use: HEL72D (RRID:CVCL_UL35)
Comments	From: University of Helsinki; Helsinki; Finland. Population: Caucasian; Finnish. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:11364; STAT3; Simple; p.Lys392Arg (c.1175A>G); ClinVar=VCV000144030; Zygosity=Heterozygous (PubMed=28402852).
Disease	Diabetes mellitus (NCIt: C2985) Infantile-onset multisystem autoimmune disease 1 (NCIt: C157123) STAT3-related early-onset multisystem autoimmune disease (ORDO: Orphanet_438159)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_UL33 ! HEL72.1 CVCL_UL34 ! HEL72A
Sex of cell	Female
Age at sampling	Children
Category	Induced pluripotent stem cell
Publications	PubMed=28402852; DOI=10.1016/j.celrep.2017.03.055 Saarimaki-Vire J., Balboa D., Russell M.A., Saarikettu J., Kinnunen M., Keskitalo S., Malhi A., Valensisi C., Andrus C., Eurola S., Grym H., Ustinov J., Wartiovaara K., Hawkins R.D., Silvennoinen O., Varjosalo M., Morgan N.G., Otonkoski T. An activating STAT3 mutation causes neonatal diabetes through premature induction of pancreatic differentiation. Cell Rep. 19:281-294(2017)
Encyclopedic resources	Wikidata; Q94096158
Entry history
Entry creation	25-Feb-2019
Last entry update	19-Dec-2024
Version number	9