Cellosaurus cell line HEL72.1 (CVCL

Cellosaurus HEL72.1 (CVCL_UL33)

Cross-references
Cell line name	HEL72.1
Accession	CVCL_UL33
Resource Identification Initiative	To cite this cell line use: HEL72.1 (RRID:CVCL_UL33)
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_UL34 ! HEL72A CVCL_UL35 ! HEL72D
Sex of cell	Female
Age at sampling	Children
Category	Induced pluripotent stem cell
Publications	PubMed=28402852; DOI=10.1016/j.celrep.2017.03.055 Jonna Saarimaki-Vire, Diego Balboa, Mark A. Russell, Juha Saarikettu, Matias Kinnunen, Salla Keskitalo, Amrinder Malhi, Cristina Valensisi, Colin Andrus, Solja Eurola, Heli Grym ...Show all 18 authors... , Jarkko Ustinov, Kirmo Wartiovaara, R. David Hawkins, Olli Silvennoinen, Markku Varjosalo, Noel G. Morgan, Timo Otonkoski; Show fewer authors An activating STAT3 mutation causes neonatal diabetes through premature induction of pancreatic differentiation. Cell Rep. 19:281-294(2017)
Encyclopedic resources	Wikidata; Q94096150
Entry history
Entry creation	25-Feb-2019
Last entry update	19-Dec-2024
Version number	9