Cellosaurus cell line GM00513 (CVCL_W541)

• Mutation; HGNC; 171; ACVR1; Simple; p.Arg206His (c.617G>A); ClinVar=VCV000018309; Zygosity=Heterozygous (PubMed=34139597).
  

DOI=10.5962/bhl.title.4090
Coriell L.L., Greene A.E.
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977.
(In) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977)

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992)

PubMed=24321451; DOI=10.1186/1750-1172-8-190
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)

PubMed=34139597; DOI=10.1016/j.scr.2021.102424
Huang X.-L., Roeder A., Li R., Beers J.K., Liu C.-Y., Zou J.-H., Yu P.B., Zheng W.
Generation of an induced pluripotent stem cell line (TRNDi012-B) from fibrodysplasia ossificans progressiva (FOP) patient carrying a heterozygous mutation c. 617G > A in the ACVR1 gene.
Stem Cell Res. 54:102424-102424(2021)