ID   eFOP1-1
AC   CVCL_W543
DR   SKIP; SKIP000346
DR   Wikidata; Q54832071
RX   PubMed=24321451;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:171; ACVR1; Simple; p.Arg206His (c.617G>A); ClinVar=VCV000018309; Zygosity=Heterozygous (from parent cell line).
CC   Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C3040; Fibrodysplasia ossificans progressiva
DI   ORDO; Orphanet_337; Fibrodysplasia ossificans progressiva
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_W541 ! GM00513
SX   Female
AG   16Y
CA   Induced pluripotent stem cell
DT   Created: 16-04-14; Last updated: 19-12-24; Version: 11
//
RX   PubMed=24321451; DOI=10.1186/1750-1172-8-190; PMCID=PMC3892046;
RA   Matsumoto Y., Hayashi Y., Schlieve C.R., Ikeya M., Kim H.,
RA   Nguyen T.D., Sami S., Baba S., Barruet E., Nasu A., Asaka I.,
RA   Otsuka T., Yamanaka S., Conklin B.R., Toguchida J., Hsiao E.C.;
RT   "Induced pluripotent stem cells from patients with human
RT   fibrodysplasia ossificans progressiva show increased mineralization
RT   and cartilage formation.";
RL   Orphanet J. Rare Dis. 8:190.1-190.14(2013).
//