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

DOI=10.5962/bhl.title.4090
Lewis Lemon Coriell, Arthur E. Greene;
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 misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977)

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

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)

PubMed=34139597; DOI=10.1016/j.scr.2021.102424; PMCID=PMC9428929
Xiu-Li Huang, Amanda Roeder, Rong Li, Jeanette K. Beers, Cheng-Yu Liu, Ji-Zhong Zou, Paul B. Yu, Wei Zheng;
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)