Cellosaurus logo
expasy logo

Cellosaurus vFOP1-1 (CVCL_W549)

[Text][XML][JSON]
Cell line name vFOP1-1
Accession CVCL_W549
Resource Identification Initiative To cite this cell line use: vFOP1-1 (RRID:CVCL_W549)
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; 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
Yoshihisa Matsumoto, Yohei Hayashi, Christopher R. Schlieve, Makoto Ikeya, Hannah Kim, Trieu D. Nguyen, Salma Sami, Shiro Baba, Emilie Barruet, Akira Nasu, Isao Asaka ...Show all 16 authors... , Takanobu Otsuka, Shinya Yamanaka, Bruce R. Conklin, Junya Toguchida, Edward C. Hsiao; Show fewer authors
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; SKIP000345
Encyclopedic resources Wikidata; Q54993071
Entry history
Entry creation16-Apr-2014
Last entry update19-Dec-2024
Version number10