Cellosaurus logo
expasy logo

Cellosaurus eFOP1-1 (CVCL_W543)

[Text version]
Cell line name eFOP1-1
Accession CVCL_W543
Resource Identification Initiative To cite this cell line use: eFOP1-1 (RRID:CVCL_W543)
Comments Population: Caucasian.
Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 171; ACVR1; Simple; p.Arg206His (c.617G>A); ClinVar=VCV000018309; Zygosity=Heterozygous (from parent cell line).
Disease Fibrodysplasia ossificans progressiva (NCIt: C3040)
Fibrodysplasia ossificans progressiva (ORDO: Orphanet_337)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_W541 (GM00513)
Sex of cell Female
Age at sampling 16Y
Category Induced pluripotent stem cell
Publications

PubMed=24321451; DOI=10.1186/1750-1172-8-190; PMCID=PMC3892046
Matsumoto Y., Hayashi Y., Schlieve C.R., Ikeya M., Kim H., Nguyen T.D., Sami S., Baba S., Barruet E., Nasu A., Asaka I., Otsuka T., Yamanaka S., Conklin B.R., Toguchida J., Hsiao E.C.
Induced pluripotent stem cells from patients with human fibrodysplasia ossificans progressiva show increased mineralization and cartilage formation.
Orphanet J. Rare Dis. 8:190.1-190.14(2013)

Cross-references
Cell line databases/resources SKIP; SKIP000346
Encyclopedic resources Wikidata; Q54832071
Entry history
Entry creation16-Apr-2014
Last entry update29-Jun-2023
Version number10