ID   GM00513
AC   CVCL_W541
SY   GM-513; HDF-FOP1
DR   CLO; CLO_0025933
DR   Coriell; GM00513
DR   Wikidata; Q54836280
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=24321451;
RX   PubMed=34139597;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 171; ACVR1; Simple; p.Arg206His (c.617G>A); ClinVar=VCV000018309; Zygosity=Heterozygous (PubMed=34139597).
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)
SX   Female
AG   16Y
CA   Finite cell line
DT   Created: 16-04-14; Last updated: 29-06-23; Version: 13
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//
RX   DOI=10.5962/bhl.title.4090;
RA   Coriell L.L., Greene A.E.;
RT   "The human genetic mutant cell repository: list of genetic variants,
RT   chromosomal aberrations and normal cell cultures submitted to the
RT   repository. 4th edition. October 1977.";
RL   (In) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977).
//
RX   PubMed=24321451; DOI=10.1186/1750-1172-8-190;
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).
//
RX   PubMed=34139597; DOI=10.1016/j.scr.2021.102424;
RA   Huang X.-L., Roeder A., Li R., Beers J.K., Liu C.-Y., Zou J.-H.,
RA   Yu P.B., Zheng W.;
RT   "Generation of an induced pluripotent stem cell line (TRNDi012-B) from
RT   fibrodysplasia ossificans progressiva (FOP) patient carrying a
RT   heterozygous mutation c. 617G > A in the ACVR1 gene.";
RL   Stem Cell Res. 54:102424-102424(2021).
//